WO2010036943A2 - Genetic markers for assessing risk of developing bipolar disorder - Google Patents

Genetic markers for assessing risk of developing bipolar disorder Download PDF

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WO2010036943A2
WO2010036943A2 PCT/US2009/058459 US2009058459W WO2010036943A2 WO 2010036943 A2 WO2010036943 A2 WO 2010036943A2 US 2009058459 W US2009058459 W US 2009058459W WO 2010036943 A2 WO2010036943 A2 WO 2010036943A2
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recessive
dominant
additive
allele
subject
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PCT/US2009/058459
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French (fr)
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WO2010036943A3 (en
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Mark David Brennan
Timothy Lynn Ramsey
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Suregene Llc
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Priority to EP09816937A priority Critical patent/EP2342361A4/en
Priority to US12/612,521 priority patent/US8129117B2/en
Publication of WO2010036943A2 publication Critical patent/WO2010036943A2/en
Publication of WO2010036943A3 publication Critical patent/WO2010036943A3/en
Priority to US13/360,037 priority patent/US20120129171A1/en

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    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/106Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers

Definitions

  • This invention relates to genetic markers of Bipolar Disorder (BD).
  • BD Bipolar Disorder
  • this document provides methods of using such genetic markers for assessing risk of developing BD.
  • the schizophrenia spectrum disorders include schizophrenia (SZ), schizotypal personality disorder (SPD), and schizoaffective disorder (SD).
  • SZ schizotypal personality disorder
  • SD schizoaffective disorder
  • SZ is considered a clinical syndrome, and is probably a constellation of several pathologies. Substantial heterogeneity is seen between cases, which is thought to reflect multiple overlapping etiologic factors, including both genetic and environmental contributions.
  • SD is characterized by the presence of affective (depressive or manic) symptoms and schizophrenic symptoms within the same, uninterrupted episode of illness.
  • Bipolar Disorder which is also known as manic-depression or manic-depressive disorder, is characterized by mood that alternates between two emotional extremes, or poles: the sadness of depression and the euphoria of mania.
  • BD includes the following clinical disorders: Bipolar I disorder, Bipolar II disorder, Bipolar mania, and Bipolar depression. Both schizophrenia and bipolar disorder can be classified as psychotic disorders. Indeed, BD and SZ are clinical classifications rather than actual diseases.
  • BD and SZ can be considered two ends of a continuum of mental illness, with BD diagnosis focused more on affective symptoms (e.g., mania and depression) and SZ more focus on positive symptoms (e.g., hallucinations).
  • the diagnosis given to a patient often depends on the symptoms presented at time of diagnosis, which may or may not reflect the full extent of that patient's disease. Differential diagnosis represents a tremendous area of unmet medical need. One area in particular in which this unmet need is evident is choice of medication.
  • Two prime examples are the use of SSRI antidepressants to treat affective symptoms in SZ (which would be counter- indicated in patients with a high BD vs SZ index) and antipsychotic treatment for some BD subjects.
  • Other examples could include the addition of cognitive enhancers for subjects diagnosed with BD but scoring high for diagnosis of SZ vs BD.
  • BD bipolar disorder
  • schizophrenia spectrum disorders in order to, for example, confirm clinical diagnoses, allow for prophylactic therapies, determine optimal therapies, and provide genetic counseling for prospective parents with a personal or family history of the disorder.
  • This disclosure provides methods for identifying subjects who have or are at risk of developing psychosis, as well as making a differential diagnosis in subjects suspected of having either bipolar disorder (BD) or a schizophrenia spectrum disorder (SSD), e.g., SZ, based on detecting genetic variants in genes involved in a number of pathways including: glutamate signaling and metabolism, cell adhesion, cytoskeletal architecture, vesicle formation, and trafficking, G-protein coupled receptors, carrier proteins and transporters, cell cycle modulators, neuronal development, calcium/calmodulin signaling, neuropeptide signaling, and several additional genes identified by virtue of their interaction with genes in high impact pathways and their expression in the central nervous system.
  • This disclosure also provides methods and materials relating to determining the genetic risk of developing BD.
  • allelic and genotypic variants identified as described herein can be used for assessing genetic risk of BD or for making a differential diagnosis between BD and SZ.
  • the invention includes methods based on evaluation of SNPs for genes relating to psychosis or BD.
  • this document features methods for making a differential diagnosis between bipolar disorder (BD) and schizophrenia (SZ) in a human subject.
  • the methods can include determining the identity of at least one allele of a single nucleotide polymorphism (SNP) listed in Table 1 and comparing the identity of the allele in the subject with a reference allele, wherein the reference allele is either an allele associated with BD (OR > 1) or an allele associated with SZ (OR ⁇ 1); and wherein the presence of an allele in the subject that is the same as a reference allele that is associated with BD indicates that the subject has an increased risk of developing BD, and the presence of an allele in the subject that is the same as a reference allele that is associated with SZ indicates that the subject has an increased risk of developing SZ.
  • SNP single nucleotide polymorphism
  • the SNP can be selected from the group consisting of SEQ ID NO:2701, 154, 2409, 371, 378, 515, 509, 2878, 576, and 957.
  • this document features methods for diagnosing, or determining risk of developing, psychosis, e.g., psychosis associated with bipolar disorder (BD) or schizophrenia (SZ), in a human subject.
  • the methods can include determining the identity of at least one allele of a SNP listed in Table 2 and comparing the identity of the allele in the subject with a reference allele, wherein the reference allele is associated with psychosis; and wherein the presence of an allele in the subject that the same as the reference allele indicates that the subject has psychosis or has an increased risk of developing psychosis.
  • the SNP can be selected from the group consisting of SEQ ID NOs: 906, 2591, 1285, 904, 951, 50, 1127, 112, and 268.
  • Determining the identity of an allele can include obtaining a sample comprising DNA from the subject, and determining identity of the nucleotide at the polymorphic site. Determining the identity of the nucleotide can include contacting the sample with a probe specific for a selected allele of the polymorphism. Determining also can include detecting the formation of complexes between the probe and the selected allele of the polymorphism, wherein the formation of complexes between the probe and the test marker indicates the presence of the selected allele in the sample. Determining the identity of an allele can comprise determining the identity of the nucleotide at position 31 of one of SEQ ID NOs: 1-3141.
  • the subject can be a patient (i.e., a human patient) having or suspected of having BD or SZ.
  • the subject can have one or more risk factors associated with BD or SZ.
  • the risk factors associated with BD or SZ can include one or more of: a relative afflicted with BD or SZ; and a genetically based phenotypic trait associated with risk for a BD or SZ.
  • the subject can have exhibited or presently be exhibiting symptoms of psychosis.
  • the methods can further include selecting or excluding a subject for enrollment in a clinical trial based on the identity of the allele.
  • the methods can further include stratifying a subject population for analysis of a clinical trial based on the identity of the allele in the subjects.
  • the methods can further include confirming a diagnosis of a SZ or BD using psychometric instruments.
  • the methods can further comprise selecting a treatment for BD if the allele in the subject is the same as a reference allele in a subject who has BD, or selecting a treatment for SZ if an allele in the subject is the same as a reference allele in a subject who has SZ.
  • the methods can further include administering the selected treatment to the subject.
  • the treatment is a standard treatment for BD or SZ, e.g., a pharmaceutical treatment or psychotherapy.
  • the methods can further include recording the identity of the allele in a tangible medium.
  • the tangible medium can comprise a computer-readable disk, a solid state memory device, or an optical storage device.
  • an “allele” is one of a pair or series of genetic variants of a polymorphism at a specific genomic location.
  • a “BD risk allele” is an allele that is associated with increased risk of developing BD.
  • a “BD allele” is an allele that is statistically more often associated with BD than with SZ in patients with psychosis.
  • An “SZ allele” is an allele that is statistically more often associated with SZ than with BD in patients with psychosis. For example, using Table 1, Those SNPs that are high (OR > 1) are BD alleles by this definition.
  • genetictype refers to the diploid combination of alleles for a given genetic polymorphism. A homozygous subject carries two copies of the same allele and a heterozygous subject carries two different alleles.
  • genetic model refers to the manner in which an allele influences risk or differential diagnosis.
  • a "dominant model” the allele impacts the clinical state to the same extent whether present in one copy or two copies, i.e. whether homozygous or heterozygous.
  • a “recessive model” the allele impacts the clinical state only when homozygous.
  • an “additive model” the allele impacts the clinical state in proportion to the number of copies present, i.e. the homozygous state has twice the impact of the heterozygous state.
  • a “haplotype” is one or a set of signature genetic changes
  • a haplotype is information regarding the presence or absence of one or more genetic markers in a given chromosomal region in a subject.
  • a haplotype can consist of a variety of genetic markers, including indels (insertions or deletions of the DNA at particular locations on the chromosome); single nucleotide polymorphisms (SNPs) in which a particular nucleotide is changed; microsatellites; and minisatellites.
  • Microsatellites (sometimes referred to as a variable number of tandem repeats or VNTRs) are short segments of DNA that have a repeated sequence, usually about 2 to 5 nucleotides long (e.g., CACACA), that tend to occur in non-coding DNA. Changes in the microsatellites sometimes occur during the genetic recombination of sexual reproduction, increasing or decreasing the number of repeats found at an allele, changing the length of the allele. Microsatellite markers are stable, polymorphic, easily analyzed and occur regularly throughout the genome, making them especially suitable for genetic analysis. "Copy number variation” (CNV), as used herein, refers to variation from the normal diploid condition for a gene or polymorphism.
  • CNV Copy number variation
  • chromosome Individual segments of human chromosomes can be deleted or duplicated such that the subject's two chromosome carry fewer than two copies of the gene or polymorphism (a deletion or deficiency) or two or more copies (a duplication).
  • Linkage disequilibrium refers to when the observed frequencies of haplotypes in a population does not agree with haplotype frequencies predicted by multiplying together the frequency of individual genetic markers in each haplotype.
  • chromosome refers to a gene carrier of a cell that is derived from chromatin and comprises DNA and protein components (e.g., histones). The conventional internationally recognized individual human genome chromosome numbering identification system is employed herein.
  • the size of an individual chromosome can vary from one type to another with a given multi-chromosomal genome and from one genome to another.
  • the entire DNA mass of a given chromosome is usually greater than about 100,000,000 base pairs.
  • the size of the entire human genome is about 3 X 10 9 base pairs.
  • gene refers to a DNA sequence in a chromosome that codes for a product (either RNA or its translation product, a polypeptide).
  • a gene contains a coding region and includes regions preceding and following the coding region (termed respectively "leader” and “trailer”).
  • the coding region is comprised of a plurality of coding segments ("exons") and intervening sequences ("introns") between individual coding segments.
  • probe refers to an oligonucleotide.
  • a probe can be single stranded at the time of hybridization to a target.
  • probes include primers, i.e., oligonucleotides that can be used to prime a reaction, e.g., a PCR reaction.
  • label or "label containing moiety” refers in a moiety capable of detection, such as a radioactive isotope or group containing same, and nonisotopic labels, such as enzymes, biotin, avidin, streptavidin, digoxygenin, luminescent agents, dyes, haptens, and the like.
  • Luminescent agents depending upon the source of exciting energy, can be classified as radioluminescent, chemiluminescent, bioluminescent, and photoluminescent (including fluorescent and phosphorescent).
  • a probe described herein can be bound, e.g., chemically bound to label-containing moieties or can be suitable to be so bound. The probe can be directly or indirectly labeled.
  • direct label probe refers to a nucleic acid probe whose label after hybrid formation with a target is detectable without further reactive processing of hybrid.
  • indirect label probe refers to a nucleic acid probe whose label after hybrid formation with a target is further reacted in subsequent processing with one or more reagents to associate therewith one or more moieties that finally result in a detectable entity.
  • target refers to a nucleotide sequence that occurs at a specific chromosomal location.
  • Each such sequence or portion is preferably at least partially, single stranded (e.g., denatured) at the time of hybridization.
  • target region is sometimes used.
  • Targets for hybridization can be derived from specimens which include, but are not limited to, chromosomes or regions of chromosomes in normal, diseased or malignant human cells, either interphase or at any state of meiosis or mitosis, and either extracted or derived from living or postmortem tissues, organs or fluids; germinal cells including sperm and egg cells, or cells from zygotes, fetuses, or embryos, or chorionic or amniotic cells, or cells from any other germinating body; cells grown in vitro, from either long-term or short-term culture, and either normal, immortalized or transformed; inter- or intraspecific hybrids of different types of cells or differentiation states of these cells; individual chromosomes or portions of chromosomes, or translocated, deleted or other damaged chromosomes, isolated by any of a number of means known to those with skill in the art, including libraries of such chromosomes cloned and propagated in prokaryotic or other
  • hybrid refers to the product of a hybridization procedure between a probe and a target.
  • hybridizing conditions has general reference to the combinations of conditions that are employable in a given hybridization procedure to produce hybrids, such conditions typically involving controlled temperature, liquid phase, and contact between a probe (or probe composition) and a target. Conveniently and preferably, at least one denaturation step precedes a step wherein a probe or probe composition is contacted with a target.
  • Guidance for performing hybridization reactions can be found in Ausubel et al., Current Protocols in
  • Hybridization conditions referred to herein are a 50% formamide, 2X SSC wash for 10 minutes at 45°C followed by a 2X SSC wash for 10 minutes at 37°C. Calculations of "identity" between two sequences can be performed as follows. The sequences are aligned for optimal comparison purposes (e.g., gaps can be introduced in one or both of a first and a second nucleic acid sequence for optimal alignment and non-identical sequences can be disregarded for comparison purposes).
  • the length of a sequence aligned for comparison purposes is at least 30% (e.g., at least 40%, 50%, 60%, 70%, 80%, 90% or 100%) of the length of the reference sequence.
  • the nucleotides at corresponding nucleotide positions are then compared. When a position in the first sequence is occupied by the same nucleotide as the corresponding position in the second sequence, then the molecules are identical at that position.
  • the percent identity between the two sequences is a function of the number of identical positions shared by the sequences, taking into account the number of gaps, and the length of each gap, which need to be introduced for optimal alignment of the two sequences.
  • the comparison of sequences and determination of percent identity between two sequences can be accomplished using a mathematical algorithm.
  • the percent identity between two nucleotide sequences is determined using the GAP program in the GCG software package, using a Blossum 62 scoring matrix with a gap penalty of 12, a gap extend penalty of 4, and a frameshift gap penalty of 5.
  • the term "substantially identical" is used to refer to a first nucleotide sequence that contains a sufficient number of identical nucleotides to a second nucleotide sequence such that the first and second nucleotide sequences have similar activities.
  • Nucleotide sequences that are substantially identical are at least 80% (e.g., 85%, 90%, 95%, 97% or more) identical.
  • nonspecific binding DNA refers to DNA which is complementary to DNA segments of a probe, which DNA occurs in at least one other position in a genome, outside of a selected chromosomal target region within that genome.
  • An example of nonspecific binding DNA comprises a class of DNA repeated segments whose members commonly occur in more than one chromosome or chromosome region. Such common repetitive segments tend to hybridize to a greater extent than other DNA segments that are present in probe composition.
  • stratification refers to the creation of a distinction between subjects on the basis of a characteristic or characteristics of the subjects. Generally, in the context of clinical trials, the distinction is used to distinguish responses or effects in different sets of patients distinguished according to the stratification parameters.
  • stratification includes distinction of subject groups based on the presence or absence of particular alleles or genotypes described herein.
  • the stratification can be performed, e.g., in the course of analysis, or can be used in creation of distinct groups or in other ways.
  • BD vs SZ Methods of Differential Diagnosis (BD vs SZ) and Evaluation of Risk of Developing BD+SZ Described herein are a variety of methods for the diagnosis or determination of susceptibility to BD and SZ.
  • "Susceptibility" does not necessarily mean that the subject will develop BD or SZ, but rather that the subject is, in a statistical sense, more likely to develop BD or SZ than an average member of the population (i.e., has an increased risk of developing BD or SZ).
  • susceptibility to BD or SZ exists if the subject has an allele or genotype associated with an increased risk of BD or SZ as described herein.
  • the methods described herein can include obtaining a genotype associated with an increased risk of BD or SZ as described herein for the subject. Additionally described herein are a variety of methods for the differential diagnosis of
  • Differential diagnosis in this context means increased or decreased likelihood of being diagnosed with BD instead of SZ. Differential diagnosis does not necessarily mean that the subject will develop BD, but rather that the subject, in a statistical sense, has an increased or decreased likelihood of being diagnosed with BD instead of SZ.
  • differential diagnosis of BD exists if the subject has an allele or genotype associated with an increased or decreased likelihood of being diagnosed with BD versus SZ, as described herein. Ascertaining whether the subject has such an allele or genotype is included in the concept of differential diagnosis for BD and/or SZ as used herein. Such determination is useful, for example, for purposes of genetic counseling or selecting appropriate first line therapy.
  • the methods described herein can include detecting the presence or identity of an allele or genotype associated with an increased or decreased likelihood of being diagnosed with BD and/or SZ as described herein for the subject.
  • the subject is exhibiting or has exhibited symptoms associate with psychosis.
  • determining the identity of an allele includes obtaining information regarding the identity, presence or absence of one or more specific alleles in a subject.
  • Determining the identity of an allele can, but need not, include obtaining a sample comprising DNA from a subject, and/or assessing the identity, presence or absence of one or more genetic markers in the sample.
  • the individual or organization who determines the identity of the allele need not actually carry out the physical analysis of a sample from a subject; the methods can include using information obtained by analysis of the sample by a third party.
  • the methods can include steps that occur at more than one site.
  • a sample can be obtained from a subject at a first site, such as at a health care provider, or at the subject's home in the case of a self-testing kit.
  • the sample can be analyzed at the same or a second site, e.g., at a laboratory or other testing facility.
  • Determining the identity of an allele can also include or consist of reviewing a subject's medical history, where the medical history includes information regarding the identity, presence or absence of one or more response alleles in the subject, e.g., results of a genetic test.
  • a biological sample that includes nucleated cells is prepared and analyzed for the presence or absence of preselected markers.
  • nucleated cells such as blood, a cheek swab or mouthwash
  • diagnostic kits can be manufactured and sold to health care providers or to private individuals for self-diagnosis. Diagnostic or prognostic tests can be performed as described herein or using well known techniques, such as described in U.S. Pat. No. 5,800,998.
  • Results of these tests, and optionally interpretive information can be returned to the subject, the health care provider or to a third party pay or.
  • the results can be used in a number of ways.
  • the information can be, e.g., communicated to the tested subject, e.g., with a prognosis and optionally interpretive materials that help the subject understand the test results and prognosis.
  • the information can be used, e.g., by a health care provider, to determine whether to administer a specific drug, or whether a subject should be assigned to a specific category, e.g., a category associated with a specific disease endophenotype, or with drug response or non- response.
  • the information can be used, e.g., by a third party payor such as a healthcare payer (e.g., insurance company or HMO) or other agency, to determine whether or not to reimburse a health care provider for services to the subject, or whether to approve the provision of services to the subject.
  • a third party payor such as a healthcare payer (e.g., insurance company or HMO) or other agency, to determine whether or not to reimburse a health care provider for services to the subject, or whether to approve the provision of services to the subject.
  • the healthcare payer may decide to reimburse a health care provider for treatments for BD if the subject has BD or has an increased risk of developing BD.
  • the presence or absence of the allele or genotype in a patient may be ascertained by using any of the methods described herein.
  • SNPs single nucleotide polymorphisms
  • Tables 1 -2 and Table A list exemplary SNPs that can be used in the present methods.
  • additional variants can be identified via TDT using families with multiple affected individuals and verified by Case/Control comparisons, e.g., using the methods and markers described herein.
  • SNP markers described herein one can determine the alleles, genotypes or haplotypes in these genes relating to diagnosis or genetic risk of developing BD and/or SZ. These alleles and genotypes can then be used to determine risk of developing BD and SZ, or for making a differential diagnosis between BD and SZ.
  • the allelic and genotypic variants thus identified can be used for diagnosis and for assessing genetic risk.
  • Linkage disequilibrium is a measure of the degree of association between alleles in a population.
  • alleles involving markers in LD with the polymorphisms described herein can also be used in a similar manner to those described herein. Methods of calculating LD are known in the art (see, e.g., Morton et al., Proc. Natl. Acad. Sci. USA 98(9):5217-21 (2001); Tapper et al., Proc. Natl. Acad. Sci. USA 102(33): 11835-11839
  • the methods can include analysis of polymorphisms that are in LD with a polymorphism described herein. Methods are known in the art for identifying such polymorphisms; for example, the International HapMap Project provides a public database that can be used, see hapmap.org, as well as The International HapMap Consortium, Nature 426:789-796 (2003), and The International HapMap Consortium, Nature 437:1299-1320 (2005). Generally, it will be desirable to use a HapMap constructed using data from individuals who share ethnicity with the subject.
  • a HapMap for African Americans would ideally be used to identify markers in LD with an exemplary marker described herein for use in genotyping a subject of African American descent.
  • methods described herein can include analysis of polymorphisms that show a correlation coefficient (r 2 ) of value > 0.5 with the markers described herein. Results can be obtained from on line public resources such as HapMap.org on the World Wide Web.
  • the correlation coefficient is a measure of LD, and reflects the degree to which alleles at two loci (for example, two SNPs) occur together, such that an allele at one SNP position can predict the correlated allele at a second SNP position, in the case where r 2 is > 0.5.
  • genetic markers can be identified using any of a number of methods well known in the art. For example, numerous polymorphisms in the regions described herein are known to exist and are available in public databases, which can be searched using methods and algorithms known in the art. Alternately, polymorphisms can be identified by sequencing either genomic DNA or cDNA in the region in which it is desired to find a polymorphism. According to one approach, primers are designed to amplify such a region, and DNA from a subject is obtained and amplified. The DNA is sequenced, and the sequence (referred to as a "subject sequence" or "test sequence") is compared with a reference sequence, which can represent the "normal” or "wild type” sequence, or the "affected” sequence. In some embodiments, a reference sequence can be from, for example, the human draft genome sequence, publicly available in various databases, or a sequence deposited in a database such as GenBank. In some embodiments, the reference sequence is a composite of ethnically diverse individuals.
  • a polymorphism has been identified.
  • only two polymorphic variants will exist at any location.
  • up to four variants may exist since there are four naturally occurring nucleotides in DNA.
  • Other polymorphisms such as insertions and deletions, may have more than four alleles.
  • the methods described herein can also include determining the presence or absence of other markers known or suspected to be associated with risk of BD and/or SZ, or differentially inherited in BD versus SZ.
  • the methods include determining the presence or absence of one or more other markers that are or may be associated with BD or SZ, e.g., in one or more genes, e.g., e.g., as described in WO 2009/092032, WO 2009/089120, WO 2009/082743, US2006/0177851, and US2009/0012371 incorporated herein in their entirety. See also, e.g., OMIM entry no. 181500 (SCZD).
  • an association with BD is determined by the statistical likelihood of the presence of an allele or genotype in an individual with BD, e.g., an unrelated individual or a first or second-degree relation of the subject, and optionally the statistical likelihood of the absence of the same allele or genotype in an unaffected reference individual, e.g., an unrelated individual or a first or second-degree relation of the subject.
  • a differential association with BD versus SZ is determined by the statistical likelihood of the presence of the same genotype in both the subject and an affected reference individual, e.g., an unrelated individual or a first or second-degree relation of the subject, and the absence of the genotype in an unaffected reference individual.
  • an association with BD versus SZ is determined by the statistical likelihood of the presence of an allele or genotype in an individual with BD and the statistical likelihood of the absence of the same allele or genotype in a reference individual affected with SZ; likewise, an association with SZ versus BD is determined by the statistical likelihood of the presence of an allele or genotype in an individual with SZ and the statistical likelihood of the absence of the same allele or genotype in a reference individual affected with BD.
  • the methods can include obtaining and analyzing a sample from a suitable reference individual.
  • Genomic DNA is typically extracted from biological samples such as blood or mucosal scrapings of the lining of the mouth, but can be extracted from other biological samples including urine or expectorant.
  • the sample itself will typically consist of nucleated cells (e.g., blood or buccal cells) or tissue removed from the subject.
  • the subject can be an adult, child, fetus, or embryo.
  • the sample is obtained prenatally, either from a fetus or embryo or from the mother (e.g., from fetal or embryonic cells in the maternal circulation). Methods and reagents are known in the art for obtaining, processing, and analyzing samples.
  • the sample is obtained with the assistance of a health care provider, e.g., to draw blood.
  • the sample is obtained without the assistance of a health care provider, e.g., where the sample is obtained non- invasively, such as a sample comprising buccal cells that is obtained using a buccal swab or brush, or a mouthwash sample.
  • a biological sample may be processed for DNA isolation. For example,
  • DNA in a cell or tissue sample can be separated from other components of the sample.
  • Cells can be harvested from a biological sample using standard techniques known in the art. For example, cells can be harvested by centrifuging a cell sample and resuspending the pelleted cells. The cells can be resuspended in a buffered solution such as phosphate -buffered saline (PBS). After centrifuging the cell suspension to obtain a cell pellet, the cells can be lysed to extract DNA, e.g., gDNA. See, e.g., Ausubel et al., 2003, supra. The sample can be concentrated and/or purified to isolate DNA.
  • PBS phosphate -buffered saline
  • genomic DNA can be extracted with kits such as the QIAamp® Tissue Kit
  • Non- limiting examples of sources of samples include urine, blood, and tissue.
  • the absence or presence of an allele or genotype associated with BD and/or SZ as described herein can be determined using methods known in the art. For example, gel electrophoresis, capillary electrophoresis, size exclusion chromatography, sequencing, and/or arrays can be used to detect the presence or absence of the allele or genotype. Amplification of nucleic acids, where desirable, can be accomplished using methods known in the art, e.g., PCR. In one example, a sample (e.g., a sample comprising genomic DNA), is obtained from a subject. The DNA in the sample is then examined to identify or detect the presence of an allele or genotype as described herein.
  • a sample e.g., a sample comprising genomic DNA
  • the allele or genotype can be identified or determined by any method described herein, e.g., by sequencing or by hybridization of the gene in the genomic DNA, RNA, or cDNA to a nucleic acid probe, e.g., a DNA probe (which includes cDNA and oligonucleotide probes) or an RNA probe.
  • a nucleic acid probe e.g., a DNA probe (which includes cDNA and oligonucleotide probes) or an RNA probe.
  • the nucleic acid probe can be designed to specifically or preferentially hybridize with a particular polymorphic variant. Other methods of nucleic acid analysis can include direct manual sequencing (Church and Gilbert, Proc. Natl. Acad. ScL USA 81 :1991-1995 (1988); Sanger et al., Proc. Natl. Acad. Sci.
  • Sequence analysis can also be used to detect specific polymorphic variants.
  • polymorphic variants can be detected by sequencing exons, introns, 5' untranslated sequences, or 3' untranslated sequences.
  • a sample comprising DNA or RNA is obtained from the subject.
  • PCR or other appropriate methods can be used to amplify a portion encompassing the polymorphic site, if desired.
  • the sequence is then ascertained, using any standard method, and the presence of a polymorphic variant is determined.
  • Real-time pyrophosphate DNA sequencing is yet another approach to detection of polymorphisms and polymorphic variants (Alderborn et al., Genome Research 10(8): 1249-1258 (2000)). Additional methods include, for example, PCR amplification in combination with denaturing high performance liquid chromatography (dHPLC) (Underhill et al., Genome Research 7(10):996-1005 (1997)).
  • genomic DNA a portion of genomic DNA (gDNA) encompassing the polymorphic site.
  • gDNA genomic DNA
  • Such regions can be amplified and isolated by PCR using oligonucleotide primers designed based on genomic and/or cDNA sequences that flank the site.
  • PCR refers to procedures in which target nucleic acid (e.g., genomic DNA) is amplified in a manner similar to that described in U.S. Patent No. 4,683,195, and subsequent modifications of the procedure described therein.
  • sequence information from the ends of the region of interest or beyond are used to design oligonucleotide primers that are identical or similar in sequence to opposite strands of a potential template to be amplified. See e.g., PCR Primer: A Laboratory Manual, Dieffenbach and Dveksler, (Eds.); McPherson et al., PCR Basics: From Background to Bench (Springer
  • PCR conditions and primers can be developed that amplify a product only when the variant allele is present or only when the wild type allele is present (MSPCR or allele- specific PCR).
  • patient DNA and a control can be amplified separately using either a wild type primer or a primer specific for the variant allele.
  • Each set of reactions is then examined for the presence of amplification products using standard methods to visualize the DNA.
  • the reactions can be electrophoresed through an agarose gel and the DNA visualized by staining with ethidium bromide or other DNA intercalating dye. In DNA samples from heterozygous patients, reaction products would be detected in each reaction.
  • Real-time quantitative PCR can also be used to determine copy number.
  • Quantitative PCR permits both detection and quantification of specific DNA sequence in a sample as an absolute number of copies or as a relative amount when normalized to DNA input or other normalizing genes.
  • a key feature of quantitative PCR is that the amplified DNA product is quantified in real-time as it accumulates in the reaction after each amplification cycle.
  • Methods of quantification can include the use of fluorescent dyes that intercalate with double-stranded DNA, and modified DNA oligonucleotide probes that fluoresce when hybridized with a complementary DNA.
  • Methods of quantification can include determining the intensity of fluorescence for fluorescently tagged molecular probes attached to a solid surface such as a microarray.
  • a peptide nucleic acid (PNA) probe can be used instead of a nucleic acid probe in the hybridization methods described above.
  • PNA is a DNA mimetic with a peptide-like, inorganic backbone, e.g., N-(2-aminoethyl)glycine units, with an organic base (A, G, C, T or U) attached to the glycine nitrogen via a methylene carbonyl linker (see, e.g., Nielsen et al., Bioconjugate Chemistry, The American Chemical Society, 5: 1 (1994)).
  • the PNA probe can be designed to specifically hybridize to a nucleic acid comprising a polymorphic variant conferring susceptibility to or indicative of the presence of SZ.
  • allele-specific oligonucleotides can also be used to detect the presence of a polymorphic variant.
  • polymorphic variants can be detected by performing allele- specific hybridization or allele-specific restriction digests. Allele specific hybridization is an example of a method that can be used to detect sequence variants, including complete genotypes of a subject (e.g., a mammal such as a human). See Stoneking et al., Am. J. Hum. Genet. 48:370- 382 (1991); and Prince et al., Genome Res. 11:152-162 (2001).
  • an “allele-specific oligonucleotide” (also referred to herein as an “allele-specific oligonucleotide probe”) is an oligonucleotide that is specific for particular a polymorphism can be prepared using standard methods (see Ausubel et al., Current Protocols in Molecular Biology, supra). Allele-specific oligonucleotide probes typically can be approximately 10-50 base pairs, preferably approximately 15-30 base pairs, that specifically hybridizes to a nucleic acid region that contains a polymorphism. Hybridization conditions are selected such that a nucleic acid probe can specifically bind to the sequence of interest, e.g., the variant nucleic acid sequence.
  • hybridizations typically are performed under high stringency as some sequence variants include only a single nucleotide difference.
  • dot-blot hybridization of amplified oligonucleotides with allele-specific oligonucleotide (ASO) probes can be performed. See, for example, Saiki et al, Nature (London) 324: 163-166 (1986).
  • allele-specific restriction digest analysis can be used to detect the existence of a polymorphic variant of a polymorphism, if alternate polymorphic variants of the polymorphism result in the creation or elimination of a restriction site.
  • Allele-specific restriction digests can be performed in the following manner. A sample containing genomic DNA is obtained from the individual and genomic DNA is isolated for analysis. For nucleotide sequence variants that introduce a restriction site, restriction digest with the particular restriction enzyme can differentiate the alleles. In some cases, polymerase chain reaction (PCR) can be used to amplify a region comprising the polymorphic site, and restriction fragment length polymorphism analysis is conducted (see Ausubel et al., Current Protocols in Molecular Biology, supra).
  • PCR polymerase chain reaction
  • the digestion pattern of the relevant DNA fragment indicates the presence or absence of a particular polymorphic variant of the polymorphism and is therefore indicative of the presence or absence of susceptibility to BD and/or SZ.
  • mutagenic primers can be designed that introduce a restriction site when the variant allele is present or when the wild type allele is present.
  • a portion of a nucleic acid can be amplified using the mutagenic primer and a wild type primer, followed by digest with the appropriate restriction endonuclease.
  • fluorescence polarization template-directed dye-terminator incorporation is used to determine which of multiple polymorphic variants of a polymorphism is present in a subject (Chen et al., Genome Research 9(5):492-498 (1999)). Rather than involving use of allele-specific probes or primers, this method employs primers that terminate adjacent to a polymorphic site, so that extension of the primer by a single nucleotide results in incorporation of a nucleotide complementary to the polymorphic variant at the polymorphic site.
  • DNA containing an amplified portion may be dot-blotted, using standard methods (see Ausubel et al., Current Protocols in Molecular Biology, supra), and the blot contacted with the oligonucleotide probe. The presence of specific hybridization of the probe to the DNA is then detected. Specific hybridization of an allele-specific oligonucleotide probe (specific for a polymorphic variant indicative of susceptibility to BD and/or SZ) to DNA from the subject is indicative of susceptibility to BD and/or SZ.
  • the methods can include determining the genotype of a subject with respect to both copies of the polymorphic site present in the genome.
  • the complete genotype may be characterized as -/-, as -/+, or as +/+, where a minus sign indicates the presence of the reference or wild type sequence at the polymorphic site, and the plus sign indicates the presence of a polymorphic variant other than the reference sequence. If multiple polymorphic variants exist at a site, this can be appropriately indicated by specifying which ones are present in the subject. Any of the detection means described herein can be used to determine the genotype of a subject with respect to one or both copies of the polymorphism present in the subject's genome. Methods of nucleic acid analysis to detect polymorphisms and/or polymorphic variants can include, e.g., microarray analysis.
  • Hybridization methods such as Southern analysis, Northern analysis, or in situ hybridizations, can also be used (see Ausubel et al., Current Protocols in Molecular Biology, eds., John Wiley & Sons (2003)).
  • FISH fluorescence in situ hybridization
  • probes that detect all or a part of a microsatellite marker can be used to detect microdeletions in the region that contains that marker.
  • oligonucleotide arrays represent one suitable means for doing so.
  • Other methods including methods in which reactions (e.g., amplification, hybridization) are performed in individual vessels, e.g., within individual wells of a multi-well plate or other vessel may also be performed so as to detect the presence of multiple polymorphic variants (e.g., polymorphic variants at a plurality of polymorphic sites) in parallel or substantially simultaneously according to certain embodiments.
  • Nucleic acid probes can be used to detect and/or quantify the presence of a particular target nucleic acid sequence within a sample of nucleic acid sequences, e.g., as hybridization probes, or to amplify a particular target sequence within a sample, e.g., as a primer.
  • Probes have a complimentary nucleic acid sequence that selectively hybridizes to the target nucleic acid sequence. In order for a probe to hybridize to a target sequence, the hybridization probe must have sufficient identity with the target sequence, i.e., at least 70% (e.g., 80%, 90%, 95%, 98% or more) identity to the target sequence.
  • the probe sequence must also be sufficiently long so that the probe exhibits selectivity for the target sequence over non-target sequences.
  • the probe will be at least 20 (e.g., 25, 30, 35, 50, 100, 200, 300, 400, 500, 600, 700, 800, 900 or more) nucleotides in length.
  • the probes are not more than 30, 50, 100, 200, 300, 500, 750, or 1000 nucleotides in length. Probes are typically about 20 to about 1 x 10 6 nucleotides in length.
  • Probes include primers, which generally refers to a single-stranded oligonucleotide probe that can act as a point of initiation of template-directed DNA synthesis using methods such as PCR (polymerase chain reaction), LCR (ligase chain reaction), etc., for amplification of a target sequence.
  • primers generally refers to a single-stranded oligonucleotide probe that can act as a point of initiation of template-directed DNA synthesis using methods such as PCR (polymerase chain reaction), LCR (ligase chain reaction), etc., for amplification of a target sequence.
  • the probe can be a test probe such as a probe that can be used to detect polymorphisms in a region described herein (e.g., polymorphisms as described herein).
  • the probe can hybridize to an allele described herein.
  • the probe can bind to another marker sequence associated with SZ, SPD, SD or BD as described herein.
  • Control probes can also be used.
  • a probe that binds a less variable sequence e.g., repetitive DNA associated with a centromere of a chromosome
  • Probes that hybridize with various centromeric DNA and locus-specific DNA are available commercially, for example, from Vysis, Inc. (Downers Grove, 111.), Molecular Probes, Inc. (Eugene, Oreg.), or from Cytocell (Oxfordshire, UK).
  • Probe sets are available commercially such from Applied Biosystems, e.g., the Assays-on-Demand SNP kits Alternatively, probes can be synthesized, e.g., chemically or in vitro, or made from chromosomal or genomic DNA through standard techniques.
  • sources of DNA that can be used include genomic DNA, cloned DNA sequences, somatic cell hybrids that contain one, or a part of one, human chromosome along with the normal chromosome complement of the host, and chromosomes purified by flow cytometry or microdissection.
  • the region of interest can be isolated through cloning, or by site-specific amplification via the polymerase chain reaction (PCR).
  • the probes are labeled, e.g., by direct labeling, with a fluorophore, an organic molecule that fluoresces after absorbing light of lower wavelength/higher energy.
  • a fluorophore an organic molecule that fluoresces after absorbing light of lower wavelength/higher energy.
  • a directly labeled fluorophore allows the probe to be visualized without a secondary detection molecule.
  • the nucleotide can be directly incorporated into the probe with standard techniques such as nick translation, random priming, and PCR labeling.
  • deoxycytidine nucleotides within the probe can be transaminated with a linker. The fluorophore then is covalently attached to the transaminated deoxycytidine nucleotides. See, e.g., U.S. Pat. No. 5,491,224.
  • Fluorophores of different colors can be chosen such that each probe in a set can be distinctly visualized.
  • a combination of the following fluorophores can be used: 7- amino-4-methylcoumarin-3 -acetic acid (AMCA), TEXAS REDTM (Molecular Probes, Inc., Eugene, OR), 5-(and-6)-carboxy-X-rhodamine, lissamine rhodamine B, 5-(and-6)- carboxyfluorescein, fluorescein-5-isothiocyanate (FITC), 7-diethylaminocoumarin-3-carboxylic acid, tetramethylrhodamine-5-(and-6)-isothiocyanate, 5-(and-6)-carboxytetramethylrhodamine, 7-hydroxycoumarin-3-carboxylic acid, 6- [fluorescein 5-(and-6)-carboxamido]hexanoic acid, N- (4,4-difluoro-5,7-d
  • Fluorescently labeled probes can be viewed with a fluorescence microscope and an appropriate filter for each fluorophore, or by using dual or triple band-pass filter sets to observe multiple fluorophores. See, for example, U.S. Pat. No. 5,776,688. Alternatively, techniques such as flow cytometry can be used to examine the hybridization pattern of the probes. Fluorescence-based arrays are also known in the art.
  • the probes can be indirectly labeled with, e.g., biotin or digoxygenin, or labeled with radioactive isotopes such as 32 P and 3 H.
  • a probe indirectly labeled with biotin can be detected by avidin conjugated to a detectable marker.
  • avidin can be conjugated to an enzymatic marker such as alkaline phosphatase or horseradish peroxidase.
  • Enzymatic markers can be detected in standard colorimetric reactions using a substrate and/or a catalyst for the enzyme.
  • Catalysts for alkaline phosphatase include 5- bromo-4-chloro-3-indolylphosphate and nitro blue tetrazolium.
  • Diaminobenzoate can be used as a catalyst for horseradish peroxidase.
  • this document features arrays that include a substrate having a plurality of addressable areas, and methods of using them. At least one area of the plurality includes a nucleic acid probe that binds specifically to a sequence comprising a polymorphism listed in Tables 1 -2 or Table A, and can be used to detect the absence or presence of said polymorphism, e.g., one or more SNPs, microsatellites, minisatellites, or indels, as described herein, to determine or identify an allele or genotype.
  • the array can include one or more nucleic acid probes that can be used to detect a polymorphism listed in Tables 1 -2 or Table A.
  • the array further includes at least one area that includes a nucleic acid probe that can be used to specifically detect another marker associated with BD and/or SZ as described herein.
  • the probes are nucleic acid capture probes.
  • microarray hybridization is performed by hybridizing a nucleic acid of interest
  • the array can be scanned to determine the position on the array to which the nucleic acid hybridizes.
  • the hybridization data obtained from the scan is typically in the form of fluorescence intensities as a function of location on the array.
  • Arrays can be formed on substrates fabricated with materials such as paper, glass, plastic (e.g., polypropylene, nylon, or polystyrene), polyacrylamide, nitrocellulose, silicon, optical fiber, or any other suitable solid or semisolid support, and can be configured in a planar (e.g., glass plates, silicon chips) or three dimensional (e.g., pins, fibers, beads, particles, microtiter wells, capillaries) configuration.
  • Methods for generating arrays are known in the art and include, e.g., photolithographic methods (see, e.g., U.S. Patent Nos.
  • the array typically includes oligonucleotide hybridization probes capable of specifically hybridizing to different polymorphic variants. Oligonucleotide probes that exhibit differential or selective binding to polymorphic sites may readily be designed by one of ordinary skill in the art.
  • an oligonucleotide that is perfectly complementary to a sequence that encompasses a polymorphic site i.e., a sequence that includes the polymorphic site, within it or at one end
  • Oligonucleotide probes forming an array may be attached to a substrate by any number of techniques, including, without limitation, (i) in situ synthesis (e.g., high-density oligonucleotide arrays) using photolithographic techniques; (ii) spotting/printing at medium to low density on glass, nylon or nitrocellulose; (iii) by masking, and (iv) by dot-blotting on a nylon or nitrocellulose hybridization membrane. Oligonucleotides can be immobilized via a linker, including by covalent, ionic, or physical linkage. Linkers for immobilizing nucleic acids and polypeptides, including reversible or cleavable linkers, are known in the art.
  • oligonucleotides can be non- covalently immobilized on a substrate by hybridization to anchors, by means of magnetic beads, or in a fluid phase such as in microtiter wells or capillaries.
  • Immobilized oligonucleotide probes are typically about 20 nucleotides in length, but can vary from about 10 nucleotides to about 1000 nucleotides in length.
  • Arrays can include multiple detection blocks (i.e., multiple groups of probes designed for detection of particular polymorphisms). Such arrays can be used to analyze multiple different polymorphisms.
  • Detection blocks may be grouped within a single array or in multiple, separate arrays so that varying conditions (e.g., conditions optimized for particular polymorphisms) may be used during the hybridization. For example, it may be desirable to provide for the detection of those polymorphisms that fall within G-C rich stretches of a genomic sequence, separately from those falling in A-T rich segments.
  • oligonucleotide arrays for detection of polymorphisms can be found, for example, in U.S. Pat. Nos. 5,858,659 and 5,837,832.
  • cDNA arrays may be used similarly in certain embodiments.
  • the methods described herein can include providing an array as described herein; contacting the array with a sample (e.g., a portion of genomic DNA that includes at least a portion of a human chromosome) and/or optionally, a different portion of genomic DNA (e.g., a portion that includes a different portion of a human chromosome, e.g., including another region associated with BD and/or SZ), and detecting binding of a nucleic acid from the sample to the array.
  • a sample e.g., a portion of genomic DNA that includes at least a portion of a human chromosome
  • a different portion of genomic DNA e.g., a portion that includes a different portion of a human chromosome, e.g., including another region associated with BD and/or SZ
  • the method includes amplifying nucleic acid from the sample, e.g., genomic DNA that includes a portion of a human chromosome described herein, and, optionally, a region that includes another region associated with BD and/or SZ, prior to or during contact with the array.
  • nucleic acid from the sample e.g., genomic DNA that includes a portion of a human chromosome described herein, and, optionally, a region that includes another region associated with BD and/or SZ, prior to or during contact with the array.
  • the methods described herein can include using an array that can ascertain differential expression patterns or copy numbers of one or more genes in samples from normal and affected individuals (see, e.g., Redon et al, Nature 444(71 18):444-54 (2006)).
  • arrays of probes to a marker described herein can be used to measure polymorphisms between DNA from a subject having BD and/or SZ, and control DNA, e.g., DNA obtained from an individual that does not have BD and/or SZ, and has no risk factors for BD and/or SZ. Since the clones on the array contain sequence tags, their positions on the array are accurately known relative to the genomic sequence.
  • this document provides methods of determining the absence or presence of an allele or genotype associated with BD and/or SZ as described herein, using an array described above.
  • the methods can include providing a two dimensional array having a plurality of addresses, each address of the plurality being positionally distinguishable from each other address of the plurality having a unique nucleic acid capture probe, contacting the array with a first sample from a test subject who is suspected of having or being at risk for BD and/or SZ, and comparing the binding of the first sample with one or more references, e.g., binding of a sample from a subject who is known to have BD and/or SZ, and/or binding of a sample from a subject who is unaffected, e.g., a control sample from a subject who neither has, nor has any risk factors for BD and/or SZ.
  • the methods can include contacting the array with a second sample from a subject who has BD and/or SZ; and comparing the binding of the first sample with the binding of the second sample.
  • the methods can include contacting the array with a third sample from a cell or subject that does not have BD and/or SZ and is not at risk for BD and/or SZ; and comparing the binding of the first sample with the binding of the third sample.
  • the second and third samples are from first or second-degree relatives of the test subject.
  • binding with a capture probe at an address of the plurality can be detected by any method known in the art, e.g., by detection of a signal generated from a label attached to the nucleic acid.
  • the methods described herein can be used to determine a differential diagnosis based on the presence or absence of an allele or genotype associated with BD or with a schizophrenia spectrum disorder (SSD).
  • the SSDs include schizophrenia (SZ), schizotypal personality disorder (SPD), and schizoaffective disorder (SD).
  • SZ schizophrenia
  • SPD schizotypal personality disorder
  • SD schizoaffective disorder
  • Methods for diagnosing SSDs are known in the art, see, e.g., the Diagnostic and Statistical Manual of Mental Disorders- Fourth Edition ("DSM-IV"). See also, e.g., WO 2009/092032, incorporated herein by reference.
  • Bipolar Disorder which is also known as manic-depression or manic-depressive disorder, is characterized by mood that alternates between two emotional extremes, or poles: the sadness of depression and the euphoria of mania (see symptoms of mania below).
  • Bipolar I Disorder is diagnosed when a person has had at least one manic or mixed episode, often along with a major depressive episode. It affects equal numbers of men and women in approximately 0.4% to 1.6% of the population.
  • Bipolar II Disorder is diagnosed when a person has had a major depressive episode along with at least one hypomanic episode. It affects more women than men in about 0.5% of the population.
  • Bipolar I disorder affects equal numbers of males and females, however there does appear to be a gender difference in the onset of the illness. Females are more likely to experience a first episode of depression, while males tend to have a first episode that is manic.
  • bipolar I or II disorder Women who have bipolar I or II disorder and who have children may be at a higher risk of experiencing bipolar episodes within several months of giving birth. Of adolescents who have recurrent major depressive episodes, about 10%- 15% of them will likely develop bipolar disorder. People who have immediate relatives with bipolar I disorder have a higher risk of developing a mood disorder themselves. F or these people, the rate of developing bipolar II disorder or major depression is 4%-24% and bipolar I disorder is l%-5%.
  • the cycles of bipolar disorder may be different for each person. Oftentimes a person may first experience depression. Depression may then be replaced with manic symptoms, and the cycle between depression and mania may continue for days, weeks, or months. Between phases of depression and mania some people return to their normal mood. Some others have several periods of either depression or mania. Still others may experience several bouts of depression with infrequent phases of hypomania, or repeated manic episodes with occasional depressive periods. A portion of people, roughly 10% to 20% may only experience mania, while others can have both depression and mania at the same time. For at least 90% of those who have bipolar disorder the condition is recurrent. They will experience future symptoms of the cycles of mania and depression.
  • the person's symptoms do not indicate a mixed episode. 4.
  • the person's symptoms are a cause of great distress or difficulty in functioning at home, work, or other important areas. Or, the symptoms require the person to be hospitalized to protect the person from harming himself/herself or others. Or, the symptoms include psychotic features (hallucinations, delusions).
  • the person's symptoms are not caused by substance use (e.g., alcohol, drugs, medication), or a medical disorder.
  • the person's symptoms are a cause of great distress or difficulty in functioning at home, work, or other important areas.
  • the person's symptoms are not caused by substance use (e.g., alcohol, drugs, medication), or a medical disorder.
  • the person's symptoms are not due to normal grief or bereavement over the death of a loved one, they continue for more than two months, or they include great difficulty in functioning, frequent thoughts of worthlessness, thoughts of suicide, symptoms that are psychotic, or behavior that is slowed down (psychomotor retardation).
  • the persons' symptoms do not indicate a mixed episode. 3.
  • the person's symptoms are a cause of great distress or difficulty in functioning at home, work, or other important areas.
  • the person's symptoms are not caused by substance use (e.g., alcohol, drugs, medication), or a medical disorder.
  • the person's symptoms are not due to normal grief or bereavement over the death of a loved one, they continue for more than two months, or they include great difficulty in functioning, frequent thoughts of worthlessness, thoughts of suicide, symptoms that are psychotic, or behavior that is slowed down (psychomotor retardation).
  • hypomanic episode The person currently has, or in the past has had at least one hypomanic episode: 1. For a hypomanic episode a person's mood must be out of the ordinary and continuously heightened, exaggerated, or irritable for at least four days. 2. At least three of the following seven symptoms have been significant and enduring. If the mood is only irritable, then four symptoms are required. a. Self-esteem is excessive or grandiose. b. The need for sleep is greatly reduced. c. Talks much more than usual. d. Thoughts and ideas are continuous and without a pattern or focus. e. Easily distracted by unimportant things. f. An increase in purposeful activity or productivity, or behaving and feeling agitated. g. Reckless participation in enjoyable activities that create a high risk for negative consequences (e.g., extensive spending sprees, sexual promiscuity).
  • the episode is a substantial change for the person and uncharacteristic of his or her usual functioning.
  • the person's symptoms are not caused by substance use (e.g., alcohol, drugs, medication), or a medical disorder.
  • This document also provides methods and materials to assist medical or research professionals in determining whether or not a subject has or is at risk for developing BD and/or SZ.
  • Medical professionals can be, for example, doctors, nurses, medical laboratory technologists, and pharmacists.
  • Research professionals can be, for example, principle investigators, research technicians, postdoctoral trainees, and graduate students.
  • a professional can be assisted by (1) determining whether specific polymorphic variants are present in a biological sample from a subject, and (2) communicating information about polymorphic variants to that professional. After information about specific polymorphic variants is reported, a medical professional can take one or more actions that can affect patient care. For example, a medical professional can record information in the patient's medical record regarding the diagnosis or risk of the patient to develop BD and/or SZ.
  • a medical professional can record information regarding risk assessment, or otherwise transform the patient's medical record, to reflect the patient's current medical condition. In some cases, a medical professional can review and evaluate a patient's entire medical record and assess multiple treatment strategies for clinical intervention of a patient's condition.
  • a medical professional can initiate or modify treatment after receiving information regarding a patient's diagnosis of or risk of developing BD and/or SZ, for example.
  • a medical professional can recommend a change in therapy.
  • a medical professional can enroll a patient in a clinical trial for, by way of example, detecting correlations between an allele or genotype as described herein and any measurable or quantifiable parameter relating to the outcome of the treatment as described above.
  • a medical professional can communicate information regarding a patient's diagnosis of or risk of developing BD and/or SZ to a patient or a patient's family.
  • a medical professional can provide a patient and/or a patient's family with information regarding BD and/or SZ diagnosis and risk assessment information, including treatment options, prognosis, and referrals to specialists.
  • a medical professional can provide a copy of a patient's medical records to a specialist.
  • a research professional can apply information regarding a subject's diagnosis of or risk of developing BD and/or SZ to advance scientific research. For example, a researcher can compile data on wild specific polymorphic variants.
  • a research professional can obtain a subject's allele(s) or genotype as described herein to evaluate a subject's enrollment, or continued participation, in a research study or clinical trial.
  • a research professional can communicate information regarding a subject's diagnosis of or risk of developing BD and/or SZ to a medical professional.
  • a research professional can refer a subject to a medical professional.
  • Any appropriate method can be used to communicate information to another person (e.g., a professional).
  • information can be given directly or indirectly to a professional.
  • a laboratory technician can input a patient's polymorphic variant allele(s) or genotype as described herein into a computer-based record.
  • information is communicated by making an physical alteration to medical or research records.
  • a medical professional can make a permanent notation or flag a medical record for communicating the risk assessment to other medical professionals reviewing the record.
  • any type of communication can be used to communicate the risk assessment information.
  • mail, e-mail, telephone, and face-to-face interactions can be used.
  • the information also can be communicated to a professional by making that information electronically available to the professional.
  • the information can be communicated to a professional by placing the information on a computer database such that the professional can access the information.
  • the information can be communicated to a hospital, clinic, or research facility serving as an agent for the professional.
  • kits can include one or more other elements including: instructions for use; and other reagents such as a label or an agent useful for attaching a label to the probe.
  • Instructions for use can include instructions for diagnostic applications of the probe for making a diagnosis of or assessing risk of BD and/or SZ in a method described herein.
  • kits can include instructions for attaching a label to the probe, instructions for performing in situ analysis with the probe, and/or instructions for obtaining a sample to be analyzed from a subject.
  • the kit can include a labeled probe that hybridizes to a region of human chromosome as described herein.
  • the kit can also include one or more additional reference or control probes that hybridize to the same chromosome or another chromosome or portion thereof that can have an abnormality associated with a particular endophenotype.
  • a kit that includes additional probes can further include labels, e.g., one or more of the same or different labels for the probes.
  • the additional probe or probes provided with the kit can be a labeled probe or probes.
  • kits for use in self-testing can also be provided.
  • test kits can include devices and instructions that a subject can use to obtain a biological sample (e.g., buccal cells, blood) without the aid of a health care provider.
  • buccal cells can be obtained using a buccal swab or brush, or using mouthwash.
  • Kits as provided herein can also include a mailer (e.g., a postage paid envelope or mailing pack) that can be used to return the sample for analysis, e.g., to a laboratory.
  • the kit can include one or more containers for the sample, or the sample can be in a standard blood collection vial.
  • the kit can also include one or more of an informed consent form, a test requisition form, and instructions on how to use the kit in a method described herein. Methods for using such kits are also included herein.
  • One or more of the forms (e.g., the test requisition form) and the container holding the sample can be coded, for example, with a bar code for identifying the subject who provided the sample.
  • databases that include a list of polymorphisms as described herein, and wherein the list is largely or entirely limited to polymorphisms identified as useful for determining a diagnosis or susceptibility to BD and/or SZ as described herein.
  • the list is stored, e.g., on a flat file or computer-readable medium.
  • the databases can further include information regarding one or more subjects, e.g., whether a subject is affected or unaffected, clinical information such as endophenotype, age of onset of symptoms, any treatments administered and outcomes (e.g., data relevant to pharmacogenomics, diagnostics or theranostics), and other details, e.g., about the disorder in the subject, or environmental or other genetic factors.
  • the databases can be used to detect correlations between a particular allele or genotype and the information regarding the subject.
  • the methods described herein can also include the generation of reports, e.g., for use by a patient, care giver, pay or, or researcher, that include information regarding a subject's response allele(s), and optionally further information such as treatments administered, treatment history, medical history, predicted response, and actual response.
  • the reports can be recorded in a tangible medium, e.g., a computer-readable disk, a solid state memory device, or an optical storage device.
  • engineered cells that harbor one or more polymorphism described herein, e.g., one or more polymorphisms associated with BD and/or SZ. Such cells are useful for studying the effect of a polymorphism on physiological function, and for identifying and/or evaluating potential therapeutic agents such as anti-psychotics for the treatment of BD and/or SZ.
  • cells in which one of the various alleles of the genes described herein has been re-created that is associated with an increased risk of BD and/or SZ are included herein.
  • Methods are known in the art for generating cells, e.g., by homologous recombination between the endogenous gene and an exogenous DNA molecule introduced into a cell, e.g., a cell of an animal.
  • the cells can be used to generate transgenic animals using methods known in the art.
  • the cells are preferably mammalian cells (e.g., neuronal type cells) in which an endogenous gene has been altered to include a polymorphism as described herein.
  • Techniques such as targeted homologous recombinations, can be used to insert the heterologous DNA as described in, e.g., Chappel, US 5,272,071; WO 91/06667, published in May 16, 1991.
  • Genotypes and Alleles that Contribute to Differential Diagnosis of BD versus SZ were obtained from the Genetic Analysis Information Network (GAIN) Database found at ncbi.nlm.nih.gov through dbGaP, at accession number PHS000017.vl.pl. Genotypes and associated phenotype data for the GAIN Genome-Wide Association Study of Schizophrenia were provided by P. Gejman, and genotyping of these samples was provided through the Genetic Association Information Network (GAIN). Data for 1018 BD cases, 1172 SZ cases and 1378 neurologically normal controls with Caucasian ancestry were evaluated for the GAIN sample.
  • GAIN Genetic Analysis Information Network
  • Dominant Model The count is one for genotypes DD and Dd and zero for genotype dd.
  • Table 1 lists alleles and genotypes influencing differential diagnosis for BD versus SZ. 1018 BD cases and 1170 SZ cases were used to identify these polymorphisms. In brief, each BD case was coded as a 1 (or case) and each SZ case was coded as 0 (or control).
  • GAIN Genetic Association Information Network
  • LRPlB 373 1900933 A DOMINANT 0 0011840 0 73
  • ARHGAP 15 391 16823036 A DOMINANT 0 0392608 1 20
  • ARHGAP 15 392 16823114 A DOMINANT 0 0470151 1 19
  • ARHGAP 15 393 10928200 T DOMINANT 0 0406542 1 20
  • TMEFF2 444 17433337 A DOMINANT 0 0138373 0 79
  • KALRN 645 2008839 A DOMINANT 0 0354175 0 77
  • CTSO 894 6832480 T DOMINANT 0 0237369 1 22
  • EXOC2 1162 9405242 A DOMINANT 0 0286682 0 82
  • NKAIN2 1259 342660 A DOMINANT 0 0416553 0 70
  • VPS41 1348 6462862 A DOMINANT 0 0358235 0 83
  • CNTNAP2 1552 700309 A ADDITIVE 0 0042302 1 16

Abstract

This document provides methods and materials related to genetic markers of Bipolar Disorder (BD) and Schizophrenia (SZ). For example, methods for using such genetic markers to assess risk of developing BD and/or SZ are provided, as are methods for making a differential diagnosis between BD and SZ.

Description

GENETIC MARKERS FOR ASSESSING RISK OF DEVELOPING BIPOLAR DISORDER
CLAIM OF PRIORITY This application claims the benefit of U.S. Provisional Application Serial No.
61/100,176, filed on September 25, 2008, which is incorporated by reference in its entirety herein.
FEDERALLY SPONSORED RESEARCH OR DEVELOPMENT
The U.S. Government has certain rights in this invention pursuant to Grant No. R43 MH078437 awarded by the National Institutes of Health.
TECHNICAL FIELD
This invention relates to genetic markers of Bipolar Disorder (BD). For example, this document provides methods of using such genetic markers for assessing risk of developing BD.
BACKGROUND The schizophrenia spectrum disorders include schizophrenia (SZ), schizotypal personality disorder (SPD), and schizoaffective disorder (SD). Schizophrenia (SZ) is considered a clinical syndrome, and is probably a constellation of several pathologies. Substantial heterogeneity is seen between cases, which is thought to reflect multiple overlapping etiologic factors, including both genetic and environmental contributions. SD is characterized by the presence of affective (depressive or manic) symptoms and schizophrenic symptoms within the same, uninterrupted episode of illness. SPD is characterized by a pervasive pattern of social and interpersonal deficits marked by acute discomfort with, and reduced capacity for, close relationships as well as by cognitive or perceptual distortions and eccentricities of behavior, beginning by early adulthood and present in a variety of contexts. Bipolar Disorder (BD), which is also known as manic-depression or manic-depressive disorder, is characterized by mood that alternates between two emotional extremes, or poles: the sadness of depression and the euphoria of mania. BD includes the following clinical disorders: Bipolar I disorder, Bipolar II disorder, Bipolar mania, and Bipolar depression. Both schizophrenia and bipolar disorder can be classified as psychotic disorders. Indeed, BD and SZ are clinical classifications rather than actual diseases. The two diagnoses share many common features, with BD subjects often suffering in particular from extensive delusions similar to those seen in SZ. Similarly, SZ patients often have substantial affective symptoms such as mania and depression. Indeed, BD and SZ can be considered two ends of a continuum of mental illness, with BD diagnosis focused more on affective symptoms (e.g., mania and depression) and SZ more focus on positive symptoms (e.g., hallucinations). The diagnosis given to a patient often depends on the symptoms presented at time of diagnosis, which may or may not reflect the full extent of that patient's disease. Differential diagnosis represents a tremendous area of unmet medical need. One area in particular in which this unmet need is evident is choice of medication. Two prime examples are the use of SSRI antidepressants to treat affective symptoms in SZ (which would be counter- indicated in patients with a high BD vs SZ index) and antipsychotic treatment for some BD subjects. Other examples could include the addition of cognitive enhancers for subjects diagnosed with BD but scoring high for diagnosis of SZ vs BD.
Various genes and chromosomes have been implicated in etiology of SZ and BD. Many studies have suggested the presence of one or more important genes relating to SZ and BD on most or all of the autosomes (Williams et al, Hum. MoI. Genet. 8:1729-1739 (1999); Middleton et al., Am. J. Hum. Genet. 74:886-897 (2004); Matsuoka et al., Synapse 62:1-7 (2008); Fallin et al., Am. J. Hum. Genet. 77:918-936 (2005); Sklar et al., MoI. Psychiatry 13:558-569 (2008); Sun et al., Am. J. Med. Genet. B Neuropsychiatr. Genet. (2008); Badner et al., MoI. Psychiatry 7:405- 411 (2002); Bennett et al., MoI. Psychiatry 7:189-200 (2002); Cooper-Casey et al., MoI. Psychiatry 10:651-656 (2005); Devlin et al., MoI Psychiatry 7:689-694 (2002); Fallin et al., Am. J. Hum. Genet. 73:601-611 (2003); Ginns et al., Proc. Natl Acad. ScL U. S A 95:15531-15536 (1998); Jablensky, MoI. Psychiatry (2006); Kirov et al., J. Clin. Invest. 115: 1440-1448 (2005); Norton et al., Curr. Opin. Psychiatry 19:158-164 (2006); Owen et al., MoI. Psychiatry 9:14-27 (2004)) However, none of these prior studies have used high resolution genetic association methods to systematically compare genes involved in psychosis, SZ and BD. Neither have any of these studies demonstrated that genetic polymorphisms in the genes defined herein are important, in particular in the genetic etiology of psychosis, or BD. Due to the severity of these disorders, especially the negative impact of a psychotic episode on a patient, and the diminishing recovery after each psychotic episode, there is a need to more conclusively identify individuals who have or are at risk of developing bipolar disorder (BD) or schizophrenia spectrum disorders in order to, for example, confirm clinical diagnoses, allow for prophylactic therapies, determine optimal therapies, and provide genetic counseling for prospective parents with a personal or family history of the disorder.
SUMMARY
This disclosure provides methods for identifying subjects who have or are at risk of developing psychosis, as well as making a differential diagnosis in subjects suspected of having either bipolar disorder (BD) or a schizophrenia spectrum disorder (SSD), e.g., SZ, based on detecting genetic variants in genes involved in a number of pathways including: glutamate signaling and metabolism, cell adhesion, cytoskeletal architecture, vesicle formation, and trafficking, G-protein coupled receptors, carrier proteins and transporters, cell cycle modulators, neuronal development, calcium/calmodulin signaling, neuropeptide signaling, and several additional genes identified by virtue of their interaction with genes in high impact pathways and their expression in the central nervous system. This disclosure also provides methods and materials relating to determining the genetic risk of developing BD. For example, the allelic and genotypic variants identified as described herein can be used for assessing genetic risk of BD or for making a differential diagnosis between BD and SZ. Specifically, the invention includes methods based on evaluation of SNPs for genes relating to psychosis or BD.
In one aspect, this document features methods for making a differential diagnosis between bipolar disorder (BD) and schizophrenia (SZ) in a human subject. The methods can include determining the identity of at least one allele of a single nucleotide polymorphism (SNP) listed in Table 1 and comparing the identity of the allele in the subject with a reference allele, wherein the reference allele is either an allele associated with BD (OR > 1) or an allele associated with SZ (OR < 1); and wherein the presence of an allele in the subject that is the same as a reference allele that is associated with BD indicates that the subject has an increased risk of developing BD, and the presence of an allele in the subject that is the same as a reference allele that is associated with SZ indicates that the subject has an increased risk of developing SZ. The SNP can be selected from the group consisting of SEQ ID NO:2701, 154, 2409, 371, 378, 515, 509, 2878, 576, and 957. In another aspect, this document features methods for diagnosing, or determining risk of developing, psychosis, e.g., psychosis associated with bipolar disorder (BD) or schizophrenia (SZ), in a human subject. The methods can include determining the identity of at least one allele of a SNP listed in Table 2 and comparing the identity of the allele in the subject with a reference allele, wherein the reference allele is associated with psychosis; and wherein the presence of an allele in the subject that the same as the reference allele indicates that the subject has psychosis or has an increased risk of developing psychosis. The SNP can be selected from the group consisting of SEQ ID NOs: 906, 2591, 1285, 904, 951, 50, 1127, 112, and 268. Determining the identity of an allele can include obtaining a sample comprising DNA from the subject, and determining identity of the nucleotide at the polymorphic site. Determining the identity of the nucleotide can include contacting the sample with a probe specific for a selected allele of the polymorphism. Determining also can include detecting the formation of complexes between the probe and the selected allele of the polymorphism, wherein the formation of complexes between the probe and the test marker indicates the presence of the selected allele in the sample. Determining the identity of an allele can comprise determining the identity of the nucleotide at position 31 of one of SEQ ID NOs: 1-3141.
The subject can be a patient (i.e., a human patient) having or suspected of having BD or SZ. The subject can have one or more risk factors associated with BD or SZ. The risk factors associated with BD or SZ can include one or more of: a relative afflicted with BD or SZ; and a genetically based phenotypic trait associated with risk for a BD or SZ. The subject can have exhibited or presently be exhibiting symptoms of psychosis. The methods can further include selecting or excluding a subject for enrollment in a clinical trial based on the identity of the allele. The methods can further include stratifying a subject population for analysis of a clinical trial based on the identity of the allele in the subjects. The methods can further include confirming a diagnosis of a SZ or BD using psychometric instruments. The methods can further comprise selecting a treatment for BD if the allele in the subject is the same as a reference allele in a subject who has BD, or selecting a treatment for SZ if an allele in the subject is the same as a reference allele in a subject who has SZ. The methods can further include administering the selected treatment to the subject. In some embodiments, the treatment is a standard treatment for BD or SZ, e.g., a pharmaceutical treatment or psychotherapy.
The methods can further include recording the identity of the allele in a tangible medium. The tangible medium can comprise a computer-readable disk, a solid state memory device, or an optical storage device.
Unless otherwise defined, all technical and scientific terms used herein have the same meaning as commonly understood by one of ordinary skill in the art to which this invention pertains. Although methods and materials similar or equivalent to those described herein can be used to practice the invention, suitable methods and materials are described below. All publications, patent applications, patents, and other references mentioned herein are incorporated by reference in their entirety. In case of conflict, the present specification, including definitions, will control. In addition, the materials, methods, and examples are illustrative only and not intended to be limiting.
The details of one or more embodiments of the invention are set forth in the accompanying drawings and the description below. Other features, objects, and advantages of the invention will be apparent from the description and drawings, and from the claims.
DETAILED DESCRIPTION This document provides methods for assessing genetic risk for developing bipolar disorder and/or schizophrenia (SZ) based on evaluation of single nucleotide polymorphisms (SNPs). As described herein, bioinformatic and genetic analyses provided evidence of association of the disclosed SNPs and genotypes with these disorders. Specific allelic and genotypic variants identified herein can be used to assess genetic risk and to assist with differential diagnosis.
Definitions
As used herein, an "allele" is one of a pair or series of genetic variants of a polymorphism at a specific genomic location. A "BD risk allele" is an allele that is associated with increased risk of developing BD. A "BD allele" is an allele that is statistically more often associated with BD than with SZ in patients with psychosis. An "SZ allele" is an allele that is statistically more often associated with SZ than with BD in patients with psychosis. For example, using Table 1, Those SNPs that are high (OR > 1) are BD alleles by this definition. Those that are low (OR <1) would be SZ alleles by this definition As used herein, "genotype"refers to the diploid combination of alleles for a given genetic polymorphism. A homozygous subject carries two copies of the same allele and a heterozygous subject carries two different alleles.
As used herein, "genetic model" refers to the manner in which an allele influences risk or differential diagnosis. In a "dominant model" the allele impacts the clinical state to the same extent whether present in one copy or two copies, i.e. whether homozygous or heterozygous. In a "recessive model" the allele impacts the clinical state only when homozygous. In an "additive model" the allele impacts the clinical state in proportion to the number of copies present, i.e. the homozygous state has twice the impact of the heterozygous state. As used herein, a "haplotype" is one or a set of signature genetic changes
(polymorphisms) that are normally grouped closely together on the DNA strand, and are usually inherited as a group; the polymorphisms are also referred to herein as "markers." A "haplotype" as used herein is information regarding the presence or absence of one or more genetic markers in a given chromosomal region in a subject. A haplotype can consist of a variety of genetic markers, including indels (insertions or deletions of the DNA at particular locations on the chromosome); single nucleotide polymorphisms (SNPs) in which a particular nucleotide is changed; microsatellites; and minisatellites.
Microsatellites (sometimes referred to as a variable number of tandem repeats or VNTRs) are short segments of DNA that have a repeated sequence, usually about 2 to 5 nucleotides long (e.g., CACACA), that tend to occur in non-coding DNA. Changes in the microsatellites sometimes occur during the genetic recombination of sexual reproduction, increasing or decreasing the number of repeats found at an allele, changing the length of the allele. Microsatellite markers are stable, polymorphic, easily analyzed and occur regularly throughout the genome, making them especially suitable for genetic analysis. "Copy number variation" (CNV), as used herein, refers to variation from the normal diploid condition for a gene or polymorphism. Individual segments of human chromosomes can be deleted or duplicated such that the subject's two chromosome carry fewer than two copies of the gene or polymorphism (a deletion or deficiency) or two or more copies (a duplication). "Linkage disequilibrium" refers to when the observed frequencies of haplotypes in a population does not agree with haplotype frequencies predicted by multiplying together the frequency of individual genetic markers in each haplotype. The term "chromosome" as used herein refers to a gene carrier of a cell that is derived from chromatin and comprises DNA and protein components (e.g., histones). The conventional internationally recognized individual human genome chromosome numbering identification system is employed herein. The size of an individual chromosome can vary from one type to another with a given multi-chromosomal genome and from one genome to another. In the case of the human genome, the entire DNA mass of a given chromosome is usually greater than about 100,000,000 base pairs. For example, the size of the entire human genome is about 3 X 109 base pairs.
The term "gene" refers to a DNA sequence in a chromosome that codes for a product (either RNA or its translation product, a polypeptide). A gene contains a coding region and includes regions preceding and following the coding region (termed respectively "leader" and "trailer"). The coding region is comprised of a plurality of coding segments ("exons") and intervening sequences ("introns") between individual coding segments.
The term "probe" refers to an oligonucleotide. A probe can be single stranded at the time of hybridization to a target. As used herein, probes include primers, i.e., oligonucleotides that can be used to prime a reaction, e.g., a PCR reaction.
The term "label" or "label containing moiety" refers in a moiety capable of detection, such as a radioactive isotope or group containing same, and nonisotopic labels, such as enzymes, biotin, avidin, streptavidin, digoxygenin, luminescent agents, dyes, haptens, and the like. Luminescent agents, depending upon the source of exciting energy, can be classified as radioluminescent, chemiluminescent, bioluminescent, and photoluminescent (including fluorescent and phosphorescent). A probe described herein can be bound, e.g., chemically bound to label-containing moieties or can be suitable to be so bound. The probe can be directly or indirectly labeled. The term "direct label probe" (or "directly labeled probe") refers to a nucleic acid probe whose label after hybrid formation with a target is detectable without further reactive processing of hybrid. The term "indirect label probe" (or "indirectly labeled probe") refers to a nucleic acid probe whose label after hybrid formation with a target is further reacted in subsequent processing with one or more reagents to associate therewith one or more moieties that finally result in a detectable entity. The terms "target," "DNA target," or "DNA target region" refers to a nucleotide sequence that occurs at a specific chromosomal location. Each such sequence or portion is preferably at least partially, single stranded (e.g., denatured) at the time of hybridization. When the target nucleotide sequences are located only in a single region or fraction of a given chromosome, the term "target region" is sometimes used. Targets for hybridization can be derived from specimens which include, but are not limited to, chromosomes or regions of chromosomes in normal, diseased or malignant human cells, either interphase or at any state of meiosis or mitosis, and either extracted or derived from living or postmortem tissues, organs or fluids; germinal cells including sperm and egg cells, or cells from zygotes, fetuses, or embryos, or chorionic or amniotic cells, or cells from any other germinating body; cells grown in vitro, from either long-term or short-term culture, and either normal, immortalized or transformed; inter- or intraspecific hybrids of different types of cells or differentiation states of these cells; individual chromosomes or portions of chromosomes, or translocated, deleted or other damaged chromosomes, isolated by any of a number of means known to those with skill in the art, including libraries of such chromosomes cloned and propagated in prokaryotic or other cloning vectors, or amplified in vitro by means well known to those with skill; or any forensic material, including but not limited to blood, or other samples.
The term "hybrid" refers to the product of a hybridization procedure between a probe and a target. The term "hybridizing conditions" has general reference to the combinations of conditions that are employable in a given hybridization procedure to produce hybrids, such conditions typically involving controlled temperature, liquid phase, and contact between a probe (or probe composition) and a target. Conveniently and preferably, at least one denaturation step precedes a step wherein a probe or probe composition is contacted with a target. Guidance for performing hybridization reactions can be found in Ausubel et al., Current Protocols in
Molecular Biology, John Wiley & Sons, N.Y. (2003), 6.3.1-6.3.6. Aqueous and nonaqueous methods are described in that reference and either can be used. Hybridization conditions referred to herein are a 50% formamide, 2X SSC wash for 10 minutes at 45°C followed by a 2X SSC wash for 10 minutes at 37°C. Calculations of "identity" between two sequences can be performed as follows. The sequences are aligned for optimal comparison purposes (e.g., gaps can be introduced in one or both of a first and a second nucleic acid sequence for optimal alignment and non-identical sequences can be disregarded for comparison purposes). The length of a sequence aligned for comparison purposes is at least 30% (e.g., at least 40%, 50%, 60%, 70%, 80%, 90% or 100%) of the length of the reference sequence. The nucleotides at corresponding nucleotide positions are then compared. When a position in the first sequence is occupied by the same nucleotide as the corresponding position in the second sequence, then the molecules are identical at that position. The percent identity between the two sequences is a function of the number of identical positions shared by the sequences, taking into account the number of gaps, and the length of each gap, which need to be introduced for optimal alignment of the two sequences. The comparison of sequences and determination of percent identity between two sequences can be accomplished using a mathematical algorithm. In some embodiments, the percent identity between two nucleotide sequences is determined using the GAP program in the GCG software package, using a Blossum 62 scoring matrix with a gap penalty of 12, a gap extend penalty of 4, and a frameshift gap penalty of 5. As used herein, the term "substantially identical" is used to refer to a first nucleotide sequence that contains a sufficient number of identical nucleotides to a second nucleotide sequence such that the first and second nucleotide sequences have similar activities. Nucleotide sequences that are substantially identical are at least 80% (e.g., 85%, 90%, 95%, 97% or more) identical. The term "nonspecific binding DNA" refers to DNA which is complementary to DNA segments of a probe, which DNA occurs in at least one other position in a genome, outside of a selected chromosomal target region within that genome. An example of nonspecific binding DNA comprises a class of DNA repeated segments whose members commonly occur in more than one chromosome or chromosome region. Such common repetitive segments tend to hybridize to a greater extent than other DNA segments that are present in probe composition. As used herein, the term "stratification" refers to the creation of a distinction between subjects on the basis of a characteristic or characteristics of the subjects. Generally, in the context of clinical trials, the distinction is used to distinguish responses or effects in different sets of patients distinguished according to the stratification parameters. In some embodiments, stratification includes distinction of subject groups based on the presence or absence of particular alleles or genotypes described herein. The stratification can be performed, e.g., in the course of analysis, or can be used in creation of distinct groups or in other ways.
Methods of Differential Diagnosis (BD vs SZ) and Evaluation of Risk of Developing BD+SZ Described herein are a variety of methods for the diagnosis or determination of susceptibility to BD and SZ. "Susceptibility" does not necessarily mean that the subject will develop BD or SZ, but rather that the subject is, in a statistical sense, more likely to develop BD or SZ than an average member of the population (i.e., has an increased risk of developing BD or SZ). As used herein, susceptibility to BD or SZ exists if the subject has an allele or genotype associated with an increased risk of BD or SZ as described herein. Ascertaining whether the subject has such an allele or genotype is included in the concept of diagnosing susceptibility to BD or SZ as used herein. Such determination is useful, for example, for purposes of genetic counseling. Thus, the methods described herein can include obtaining a genotype associated with an increased risk of BD or SZ as described herein for the subject. Additionally described herein are a variety of methods for the differential diagnosis of
BD versus SZ. Differential diagnosis in this context means increased or decreased likelihood of being diagnosed with BD instead of SZ. Differential diagnosis does not necessarily mean that the subject will develop BD, but rather that the subject, in a statistical sense, has an increased or decreased likelihood of being diagnosed with BD instead of SZ. As used herein, differential diagnosis of BD exists if the subject has an allele or genotype associated with an increased or decreased likelihood of being diagnosed with BD versus SZ, as described herein. Ascertaining whether the subject has such an allele or genotype is included in the concept of differential diagnosis for BD and/or SZ as used herein. Such determination is useful, for example, for purposes of genetic counseling or selecting appropriate first line therapy. Thus, the methods described herein can include detecting the presence or identity of an allele or genotype associated with an increased or decreased likelihood of being diagnosed with BD and/or SZ as described herein for the subject. In some embodiments, the subject is exhibiting or has exhibited symptoms associate with psychosis.
As used herein, "determining the identity of an allele" includes obtaining information regarding the identity, presence or absence of one or more specific alleles in a subject.
Determining the identity of an allele can, but need not, include obtaining a sample comprising DNA from a subject, and/or assessing the identity, presence or absence of one or more genetic markers in the sample. The individual or organization who determines the identity of the allele need not actually carry out the physical analysis of a sample from a subject; the methods can include using information obtained by analysis of the sample by a third party. Thus the methods can include steps that occur at more than one site. For example, a sample can be obtained from a subject at a first site, such as at a health care provider, or at the subject's home in the case of a self-testing kit. The sample can be analyzed at the same or a second site, e.g., at a laboratory or other testing facility.
Determining the identity of an allele can also include or consist of reviewing a subject's medical history, where the medical history includes information regarding the identity, presence or absence of one or more response alleles in the subject, e.g., results of a genetic test.
In some embodiments, to determine the identity of an allele or presence/absence of an allele or genotype described herein, a biological sample that includes nucleated cells (such as blood, a cheek swab or mouthwash) is prepared and analyzed for the presence or absence of preselected markers. Such diagnoses may be performed by diagnostic laboratories, or, alternatively, diagnostic kits can be manufactured and sold to health care providers or to private individuals for self-diagnosis. Diagnostic or prognostic tests can be performed as described herein or using well known techniques, such as described in U.S. Pat. No. 5,800,998.
Results of these tests, and optionally interpretive information, can be returned to the subject, the health care provider or to a third party pay or. The results can be used in a number of ways. The information can be, e.g., communicated to the tested subject, e.g., with a prognosis and optionally interpretive materials that help the subject understand the test results and prognosis. The information can be used, e.g., by a health care provider, to determine whether to administer a specific drug, or whether a subject should be assigned to a specific category, e.g., a category associated with a specific disease endophenotype, or with drug response or non- response. The information can be used, e.g., by a third party payor such as a healthcare payer (e.g., insurance company or HMO) or other agency, to determine whether or not to reimburse a health care provider for services to the subject, or whether to approve the provision of services to the subject. For example, the healthcare payer may decide to reimburse a health care provider for treatments for BD if the subject has BD or has an increased risk of developing BD. The presence or absence of the allele or genotype in a patient may be ascertained by using any of the methods described herein.
Alleles and Genotypes Associated with BD and SZ, or BD vs SZ
This document provides methods for assessing genetic risk based on evaluation of single nucleotide polymorphisms (SNPs) for genes relating to risk of developing Bipolar Disorder (BD) or differential diagnosis between BD and SZ. Tables 1 -2 and Table A list exemplary SNPs that can be used in the present methods. One of skill in the art will appreciate that additional variants can be identified via TDT using families with multiple affected individuals and verified by Case/Control comparisons, e.g., using the methods and markers described herein. Using the SNP markers described herein, one can determine the alleles, genotypes or haplotypes in these genes relating to diagnosis or genetic risk of developing BD and/or SZ. These alleles and genotypes can then be used to determine risk of developing BD and SZ, or for making a differential diagnosis between BD and SZ. The allelic and genotypic variants thus identified can be used for diagnosis and for assessing genetic risk.
Markers in Linkage disequilibrium (LD)
Linkage disequilibrium (LD) is a measure of the degree of association between alleles in a population. One of skill in the art will appreciate that alleles involving markers in LD with the polymorphisms described herein can also be used in a similar manner to those described herein. Methods of calculating LD are known in the art (see, e.g., Morton et al., Proc. Natl. Acad. Sci. USA 98(9):5217-21 (2001); Tapper et al., Proc. Natl. Acad. Sci. USA 102(33): 11835-11839
(2005); Maniatis et al., Proc. Natl. Acad. Sci. USA 99:2228-2233 (2002)). Thus, in some cases, the methods can include analysis of polymorphisms that are in LD with a polymorphism described herein. Methods are known in the art for identifying such polymorphisms; for example, the International HapMap Project provides a public database that can be used, see hapmap.org, as well as The International HapMap Consortium, Nature 426:789-796 (2003), and The International HapMap Consortium, Nature 437:1299-1320 (2005). Generally, it will be desirable to use a HapMap constructed using data from individuals who share ethnicity with the subject. For example, a HapMap for African Americans would ideally be used to identify markers in LD with an exemplary marker described herein for use in genotyping a subject of African American descent. Alternatively, methods described herein can include analysis of polymorphisms that show a correlation coefficient (r2) of value > 0.5 with the markers described herein. Results can be obtained from on line public resources such as HapMap.org on the World Wide Web. The correlation coefficient is a measure of LD, and reflects the degree to which alleles at two loci (for example, two SNPs) occur together, such that an allele at one SNP position can predict the correlated allele at a second SNP position, in the case where r2 is > 0.5.
Identifying Additional Genetic Markers
In general, genetic markers can be identified using any of a number of methods well known in the art. For example, numerous polymorphisms in the regions described herein are known to exist and are available in public databases, which can be searched using methods and algorithms known in the art. Alternately, polymorphisms can be identified by sequencing either genomic DNA or cDNA in the region in which it is desired to find a polymorphism. According to one approach, primers are designed to amplify such a region, and DNA from a subject is obtained and amplified. The DNA is sequenced, and the sequence (referred to as a "subject sequence" or "test sequence") is compared with a reference sequence, which can represent the "normal" or "wild type" sequence, or the "affected" sequence. In some embodiments, a reference sequence can be from, for example, the human draft genome sequence, publicly available in various databases, or a sequence deposited in a database such as GenBank. In some embodiments, the reference sequence is a composite of ethnically diverse individuals.
In general, if sequencing reveals a difference between the sequenced region and the reference sequence, a polymorphism has been identified. The fact that a difference in nucleotide sequence is identified at a particular site that determines that a polymorphism exists at that site. In most instances, particularly in the case of SNPs, only two polymorphic variants will exist at any location. However, in the case of SNPs, up to four variants may exist since there are four naturally occurring nucleotides in DNA. Other polymorphisms, such as insertions and deletions, may have more than four alleles.
The methods described herein can also include determining the presence or absence of other markers known or suspected to be associated with risk of BD and/or SZ, or differentially inherited in BD versus SZ. In some embodiments, the methods include determining the presence or absence of one or more other markers that are or may be associated with BD or SZ, e.g., in one or more genes, e.g., e.g., as described in WO 2009/092032, WO 2009/089120, WO 2009/082743, US2006/0177851, and US2009/0012371 incorporated herein in their entirety. See also, e.g., OMIM entry no. 181500 (SCZD).
Methods of Determining the Identity of an Allele or Obtaining a Genotype The methods described herein include determining the identity, presence or absence of alleles or genotypes associated with diagnosis or risk of developing BD and/or SZ, or differentially associated with BD versus SZ. In some embodiments, an association with BD is determined by the statistical likelihood of the presence of an allele or genotype in an individual with BD, e.g., an unrelated individual or a first or second-degree relation of the subject, and optionally the statistical likelihood of the absence of the same allele or genotype in an unaffected reference individual, e.g., an unrelated individual or a first or second-degree relation of the subject. In some embodiments, a differential association with BD versus SZ is determined by the statistical likelihood of the presence of the same genotype in both the subject and an affected reference individual, e.g., an unrelated individual or a first or second-degree relation of the subject, and the absence of the genotype in an unaffected reference individual. For example, an association with BD versus SZ is determined by the statistical likelihood of the presence of an allele or genotype in an individual with BD and the statistical likelihood of the absence of the same allele or genotype in a reference individual affected with SZ; likewise, an association with SZ versus BD is determined by the statistical likelihood of the presence of an allele or genotype in an individual with SZ and the statistical likelihood of the absence of the same allele or genotype in a reference individual affected with BD. Thus the methods can include obtaining and analyzing a sample from a suitable reference individual.
Samples that are suitable for use in the methods described herein contain genetic material, e.g., genomic DNA (gDNA). Genomic DNA is typically extracted from biological samples such as blood or mucosal scrapings of the lining of the mouth, but can be extracted from other biological samples including urine or expectorant. The sample itself will typically consist of nucleated cells (e.g., blood or buccal cells) or tissue removed from the subject. The subject can be an adult, child, fetus, or embryo. In some embodiments, the sample is obtained prenatally, either from a fetus or embryo or from the mother (e.g., from fetal or embryonic cells in the maternal circulation). Methods and reagents are known in the art for obtaining, processing, and analyzing samples. In some embodiments, the sample is obtained with the assistance of a health care provider, e.g., to draw blood. In some embodiments, the sample is obtained without the assistance of a health care provider, e.g., where the sample is obtained non- invasively, such as a sample comprising buccal cells that is obtained using a buccal swab or brush, or a mouthwash sample. In some cases, a biological sample may be processed for DNA isolation. For example,
DNA in a cell or tissue sample can be separated from other components of the sample. Cells can be harvested from a biological sample using standard techniques known in the art. For example, cells can be harvested by centrifuging a cell sample and resuspending the pelleted cells. The cells can be resuspended in a buffered solution such as phosphate -buffered saline (PBS). After centrifuging the cell suspension to obtain a cell pellet, the cells can be lysed to extract DNA, e.g., gDNA. See, e.g., Ausubel et al., 2003, supra. The sample can be concentrated and/or purified to isolate DNA. All samples obtained from a subject, including those subjected to any sort of further processing, are considered to be obtained from the subject. Routine methods can be used to extract genomic DNA from a biological sample, including, for example, phenol extraction. Alternatively, genomic DNA can be extracted with kits such as the QIAamp® Tissue Kit
(Qiagen, Chatsworth, CA) and the Wizard® Genomic DNA purification kit (Promega). Non- limiting examples of sources of samples include urine, blood, and tissue.
The absence or presence of an allele or genotype associated with BD and/or SZ as described herein can be determined using methods known in the art. For example, gel electrophoresis, capillary electrophoresis, size exclusion chromatography, sequencing, and/or arrays can be used to detect the presence or absence of the allele or genotype. Amplification of nucleic acids, where desirable, can be accomplished using methods known in the art, e.g., PCR. In one example, a sample (e.g., a sample comprising genomic DNA), is obtained from a subject. The DNA in the sample is then examined to identify or detect the presence of an allele or genotype as described herein. The allele or genotype can be identified or determined by any method described herein, e.g., by sequencing or by hybridization of the gene in the genomic DNA, RNA, or cDNA to a nucleic acid probe, e.g., a DNA probe (which includes cDNA and oligonucleotide probes) or an RNA probe. The nucleic acid probe can be designed to specifically or preferentially hybridize with a particular polymorphic variant. Other methods of nucleic acid analysis can include direct manual sequencing (Church and Gilbert, Proc. Natl. Acad. ScL USA 81 :1991-1995 (1988); Sanger et al., Proc. Natl. Acad. Sci. USA 74:5463-5467 (1977); Beavis et al., U.S. Pat. No. 5,288,644); automated fluorescent sequencing; single-stranded conformation polymorphism assays (SSCP) (Schafer et al., Nat. Biotechnol. 15:33-39 (1995)); clamped denaturing gel electrophoresis (CDGE); two-dimensional gel electrophoresis (2DGE or TDGE); conformational sensitive gel electrophoresis (CSGE); denaturing gradient gel electrophoresis (DGGE) (Sheffield et al., Proc. Natl. Acad. Sci. USA 86:232-236 (1989)); denaturing high performance liquid chromatography (DHPLC, Underhill et al., Genome Res. 7:996-1005 (1997)); infrared matrix-assisted laser desorption/ionization (IR- MALDI) mass spectrometry (WO 99/57318); mobility shift analysis (Orita et al., Proc. Natl. Acad. Sci. USA 86:2766-2770 (1989)); restriction enzyme analysis (Flavell et al., Cell 15:25 (1978); Geever et al., Proc. Natl. Acad. Sci. USA 78:5081 (1981)); quantitative real-time PCR (Raca et al., Genet Test 8(4):387-94 (2004)); heteroduplex analysis; chemical mismatch cleavage (CMC) (Cotton et al., Proc. Natl. Acad. Sci. USA 85:4397-4401 (1985)); RNase protection assays (Myers et al., Science 230:1242 (1985)); use of polypeptides that recognize nucleotide mismatches, e.g., E. coli mutS protein; allele-specific PCR, and combinations of such methods. See, e.g., Gerber et al., U.S. Patent Publication No. 2004/0014095 which is incorporated herein by reference in its entirety.
Sequence analysis can also be used to detect specific polymorphic variants. For example, polymorphic variants can be detected by sequencing exons, introns, 5' untranslated sequences, or 3' untranslated sequences. A sample comprising DNA or RNA is obtained from the subject. PCR or other appropriate methods can be used to amplify a portion encompassing the polymorphic site, if desired. The sequence is then ascertained, using any standard method, and the presence of a polymorphic variant is determined. Real-time pyrophosphate DNA sequencing is yet another approach to detection of polymorphisms and polymorphic variants (Alderborn et al., Genome Research 10(8): 1249-1258 (2000)). Additional methods include, for example, PCR amplification in combination with denaturing high performance liquid chromatography (dHPLC) (Underhill et al., Genome Research 7(10):996-1005 (1997)).
In order to detect polymorphisms and/or polymorphic variants, it will frequently be desirable to amplify a portion of genomic DNA (gDNA) encompassing the polymorphic site. Such regions can be amplified and isolated by PCR using oligonucleotide primers designed based on genomic and/or cDNA sequences that flank the site. PCR refers to procedures in which target nucleic acid (e.g., genomic DNA) is amplified in a manner similar to that described in U.S. Patent No. 4,683,195, and subsequent modifications of the procedure described therein. Generally, sequence information from the ends of the region of interest or beyond are used to design oligonucleotide primers that are identical or similar in sequence to opposite strands of a potential template to be amplified. See e.g., PCR Primer: A Laboratory Manual, Dieffenbach and Dveksler, (Eds.); McPherson et al., PCR Basics: From Background to Bench (Springer
Verlag, 2000); Mattila et al., Nucleic Acids Res., 19:4967 (1991); Eckert et al., PCR Methods and Applications, 1 :17 (1991); PCR (eds. McPherson et al., IRL Press, Oxford); and U.S. Pat. No. 4,683,202. Other amplification methods that may be employed include the ligase chain reaction (LCR) (Wu and Wallace, Genomics 4:560 (1989), Landegren et al., Science 241: 1077 (1988), transcription amplification (Kwoh et al., Proc. Natl. Acad. Sci. USA 86:1173 (1989)), self- sustained sequence replication (Guatelli et al., Proc. Nat. Acad. Sci. USA 87:1874 (1990)), and nucleic acid based sequence amplification (NASBA). Guidelines for selecting primers for PCR amplification are well known in the art. See, e.g., McPherson et al., PCR Basics: From Background to Bench, Springer- Verlag, 2000. A variety of computer programs for designing primers are available, e.g., 'Oligo' (National Biosciences, Inc, Plymouth Minn.), MacVector (Kodak/IBI), and the GCG suite of sequence analysis programs (Genetics Computer Group, Madison, Wis. 53711).
In some cases, PCR conditions and primers can be developed that amplify a product only when the variant allele is present or only when the wild type allele is present (MSPCR or allele- specific PCR). For example, patient DNA and a control can be amplified separately using either a wild type primer or a primer specific for the variant allele. Each set of reactions is then examined for the presence of amplification products using standard methods to visualize the DNA. For example, the reactions can be electrophoresed through an agarose gel and the DNA visualized by staining with ethidium bromide or other DNA intercalating dye. In DNA samples from heterozygous patients, reaction products would be detected in each reaction.
Real-time quantitative PCR can also be used to determine copy number. Quantitative PCR permits both detection and quantification of specific DNA sequence in a sample as an absolute number of copies or as a relative amount when normalized to DNA input or other normalizing genes. A key feature of quantitative PCR is that the amplified DNA product is quantified in real-time as it accumulates in the reaction after each amplification cycle. Methods of quantification can include the use of fluorescent dyes that intercalate with double-stranded DNA, and modified DNA oligonucleotide probes that fluoresce when hybridized with a complementary DNA. Methods of quantification can include determining the intensity of fluorescence for fluorescently tagged molecular probes attached to a solid surface such as a microarray. The first report of extensive copy number variation (CNV) in the human genome used intensity analysis of microarray data to document numerous examples of genes that vary in copy number (Redon et al, Nature 444(7118):444-54 (2006)). Subsequent studies have shown that certain copy number variants are associated with complex genetic diseases such as SZ (Walsh et al., Science 320(5875):539-43 (2008); and Stone et al., Nature 455(7210):237-41 (2008)). In some embodiments, a peptide nucleic acid (PNA) probe can be used instead of a nucleic acid probe in the hybridization methods described above. PNA is a DNA mimetic with a peptide-like, inorganic backbone, e.g., N-(2-aminoethyl)glycine units, with an organic base (A, G, C, T or U) attached to the glycine nitrogen via a methylene carbonyl linker (see, e.g., Nielsen et al., Bioconjugate Chemistry, The American Chemical Society, 5: 1 (1994)). The PNA probe can be designed to specifically hybridize to a nucleic acid comprising a polymorphic variant conferring susceptibility to or indicative of the presence of SZ.
In some cases, allele-specific oligonucleotides can also be used to detect the presence of a polymorphic variant. For example, polymorphic variants can be detected by performing allele- specific hybridization or allele-specific restriction digests. Allele specific hybridization is an example of a method that can be used to detect sequence variants, including complete genotypes of a subject (e.g., a mammal such as a human). See Stoneking et al., Am. J. Hum. Genet. 48:370- 382 (1991); and Prince et al., Genome Res. 11:152-162 (2001). An "allele-specific oligonucleotide" (also referred to herein as an "allele-specific oligonucleotide probe") is an oligonucleotide that is specific for particular a polymorphism can be prepared using standard methods (see Ausubel et al., Current Protocols in Molecular Biology, supra). Allele-specific oligonucleotide probes typically can be approximately 10-50 base pairs, preferably approximately 15-30 base pairs, that specifically hybridizes to a nucleic acid region that contains a polymorphism. Hybridization conditions are selected such that a nucleic acid probe can specifically bind to the sequence of interest, e.g., the variant nucleic acid sequence. Such hybridizations typically are performed under high stringency as some sequence variants include only a single nucleotide difference. In some cases, dot-blot hybridization of amplified oligonucleotides with allele-specific oligonucleotide (ASO) probes can be performed. See, for example, Saiki et al, Nature (London) 324: 163-166 (1986).
In some embodiments, allele-specific restriction digest analysis can be used to detect the existence of a polymorphic variant of a polymorphism, if alternate polymorphic variants of the polymorphism result in the creation or elimination of a restriction site. Allele-specific restriction digests can be performed in the following manner. A sample containing genomic DNA is obtained from the individual and genomic DNA is isolated for analysis. For nucleotide sequence variants that introduce a restriction site, restriction digest with the particular restriction enzyme can differentiate the alleles. In some cases, polymerase chain reaction (PCR) can be used to amplify a region comprising the polymorphic site, and restriction fragment length polymorphism analysis is conducted (see Ausubel et al., Current Protocols in Molecular Biology, supra). The digestion pattern of the relevant DNA fragment indicates the presence or absence of a particular polymorphic variant of the polymorphism and is therefore indicative of the presence or absence of susceptibility to BD and/or SZ. For sequence variants that do not alter a common restriction site, mutagenic primers can be designed that introduce a restriction site when the variant allele is present or when the wild type allele is present. For example, a portion of a nucleic acid can be amplified using the mutagenic primer and a wild type primer, followed by digest with the appropriate restriction endonuclease.
In some embodiments, fluorescence polarization template-directed dye-terminator incorporation (FP-TDI) is used to determine which of multiple polymorphic variants of a polymorphism is present in a subject (Chen et al., Genome Research 9(5):492-498 (1999)). Rather than involving use of allele-specific probes or primers, this method employs primers that terminate adjacent to a polymorphic site, so that extension of the primer by a single nucleotide results in incorporation of a nucleotide complementary to the polymorphic variant at the polymorphic site.
In some cases, DNA containing an amplified portion may be dot-blotted, using standard methods (see Ausubel et al., Current Protocols in Molecular Biology, supra), and the blot contacted with the oligonucleotide probe. The presence of specific hybridization of the probe to the DNA is then detected. Specific hybridization of an allele-specific oligonucleotide probe (specific for a polymorphic variant indicative of susceptibility to BD and/or SZ) to DNA from the subject is indicative of susceptibility to BD and/or SZ. The methods can include determining the genotype of a subject with respect to both copies of the polymorphic site present in the genome. For example, the complete genotype may be characterized as -/-, as -/+, or as +/+, where a minus sign indicates the presence of the reference or wild type sequence at the polymorphic site, and the plus sign indicates the presence of a polymorphic variant other than the reference sequence. If multiple polymorphic variants exist at a site, this can be appropriately indicated by specifying which ones are present in the subject. Any of the detection means described herein can be used to determine the genotype of a subject with respect to one or both copies of the polymorphism present in the subject's genome. Methods of nucleic acid analysis to detect polymorphisms and/or polymorphic variants can include, e.g., microarray analysis. Hybridization methods, such as Southern analysis, Northern analysis, or in situ hybridizations, can also be used (see Ausubel et al., Current Protocols in Molecular Biology, eds., John Wiley & Sons (2003)). To detect microdeletions, fluorescence in situ hybridization (FISH) using DNA probes that are directed to a putatively deleted region in a chromosome can be used. For example, probes that detect all or a part of a microsatellite marker can be used to detect microdeletions in the region that contains that marker.
In some embodiments, it is desirable to employ methods that can detect the presence of multiple polymorphisms (e.g., polymorphic variants at a plurality of polymorphic sites) in parallel or substantially simultaneously. Oligonucleotide arrays represent one suitable means for doing so. Other methods, including methods in which reactions (e.g., amplification, hybridization) are performed in individual vessels, e.g., within individual wells of a multi-well plate or other vessel may also be performed so as to detect the presence of multiple polymorphic variants (e.g., polymorphic variants at a plurality of polymorphic sites) in parallel or substantially simultaneously according to certain embodiments. Nucleic acid probes can be used to detect and/or quantify the presence of a particular target nucleic acid sequence within a sample of nucleic acid sequences, e.g., as hybridization probes, or to amplify a particular target sequence within a sample, e.g., as a primer. Probes have a complimentary nucleic acid sequence that selectively hybridizes to the target nucleic acid sequence. In order for a probe to hybridize to a target sequence, the hybridization probe must have sufficient identity with the target sequence, i.e., at least 70% (e.g., 80%, 90%, 95%, 98% or more) identity to the target sequence. The probe sequence must also be sufficiently long so that the probe exhibits selectivity for the target sequence over non-target sequences. For example, the probe will be at least 20 (e.g., 25, 30, 35, 50, 100, 200, 300, 400, 500, 600, 700, 800, 900 or more) nucleotides in length. In some embodiments, the probes are not more than 30, 50, 100, 200, 300, 500, 750, or 1000 nucleotides in length. Probes are typically about 20 to about 1 x 106 nucleotides in length. Probes include primers, which generally refers to a single-stranded oligonucleotide probe that can act as a point of initiation of template-directed DNA synthesis using methods such as PCR (polymerase chain reaction), LCR (ligase chain reaction), etc., for amplification of a target sequence.
The probe can be a test probe such as a probe that can be used to detect polymorphisms in a region described herein (e.g., polymorphisms as described herein). For example, the probe can hybridize to an allele described herein. In some embodiments, the probe can bind to another marker sequence associated with SZ, SPD, SD or BD as described herein.
Control probes can also be used. For example, a probe that binds a less variable sequence, e.g., repetitive DNA associated with a centromere of a chromosome, can be used as a control. Probes that hybridize with various centromeric DNA and locus-specific DNA are available commercially, for example, from Vysis, Inc. (Downers Grove, 111.), Molecular Probes, Inc. (Eugene, Oreg.), or from Cytocell (Oxfordshire, UK). Probe sets are available commercially such from Applied Biosystems, e.g., the Assays-on-Demand SNP kits Alternatively, probes can be synthesized, e.g., chemically or in vitro, or made from chromosomal or genomic DNA through standard techniques. For example, sources of DNA that can be used include genomic DNA, cloned DNA sequences, somatic cell hybrids that contain one, or a part of one, human chromosome along with the normal chromosome complement of the host, and chromosomes purified by flow cytometry or microdissection. The region of interest can be isolated through cloning, or by site-specific amplification via the polymerase chain reaction (PCR). See, for example, Nath and Johnson, Biotechnic. Histochem. 73(l):6-22 (1998); Wheeless et al., Cytometry 17:319-326 (1994); and U.S. Pat. No. 5,491,224.
In some embodiments, the probes are labeled, e.g., by direct labeling, with a fluorophore, an organic molecule that fluoresces after absorbing light of lower wavelength/higher energy. A directly labeled fluorophore allows the probe to be visualized without a secondary detection molecule. After covalently attaching a fluorophore to a nucleotide, the nucleotide can be directly incorporated into the probe with standard techniques such as nick translation, random priming, and PCR labeling. Alternatively, deoxycytidine nucleotides within the probe can be transaminated with a linker. The fluorophore then is covalently attached to the transaminated deoxycytidine nucleotides. See, e.g., U.S. Pat. No. 5,491,224.
Fluorophores of different colors can be chosen such that each probe in a set can be distinctly visualized. For example, a combination of the following fluorophores can be used: 7- amino-4-methylcoumarin-3 -acetic acid (AMCA), TEXAS RED™ (Molecular Probes, Inc., Eugene, OR), 5-(and-6)-carboxy-X-rhodamine, lissamine rhodamine B, 5-(and-6)- carboxyfluorescein, fluorescein-5-isothiocyanate (FITC), 7-diethylaminocoumarin-3-carboxylic acid, tetramethylrhodamine-5-(and-6)-isothiocyanate, 5-(and-6)-carboxytetramethylrhodamine, 7-hydroxycoumarin-3-carboxylic acid, 6- [fluorescein 5-(and-6)-carboxamido]hexanoic acid, N- (4,4-difluoro-5,7-dimethyl-4-bora-3a,4a diaza-3-indacenepropionic acid, eosin-5-isothiocyanate, erythrosin-5-isothiocyanate, and CASCADE™ blue acetylazide (Molecular Probes, Inc., Eugene, OR). Fluorescently labeled probes can be viewed with a fluorescence microscope and an appropriate filter for each fluorophore, or by using dual or triple band-pass filter sets to observe multiple fluorophores. See, for example, U.S. Pat. No. 5,776,688. Alternatively, techniques such as flow cytometry can be used to examine the hybridization pattern of the probes. Fluorescence-based arrays are also known in the art.
In other embodiments, the probes can be indirectly labeled with, e.g., biotin or digoxygenin, or labeled with radioactive isotopes such as 32P and 3H. For example, a probe indirectly labeled with biotin can be detected by avidin conjugated to a detectable marker. For example, avidin can be conjugated to an enzymatic marker such as alkaline phosphatase or horseradish peroxidase. Enzymatic markers can be detected in standard colorimetric reactions using a substrate and/or a catalyst for the enzyme. Catalysts for alkaline phosphatase include 5- bromo-4-chloro-3-indolylphosphate and nitro blue tetrazolium. Diaminobenzoate can be used as a catalyst for horseradish peroxidase.
In another aspect, this document features arrays that include a substrate having a plurality of addressable areas, and methods of using them. At least one area of the plurality includes a nucleic acid probe that binds specifically to a sequence comprising a polymorphism listed in Tables 1 -2 or Table A, and can be used to detect the absence or presence of said polymorphism, e.g., one or more SNPs, microsatellites, minisatellites, or indels, as described herein, to determine or identify an allele or genotype. For example, the array can include one or more nucleic acid probes that can be used to detect a polymorphism listed in Tables 1 -2 or Table A. In some embodiments, the array further includes at least one area that includes a nucleic acid probe that can be used to specifically detect another marker associated with BD and/or SZ as described herein. In some embodiments, the probes are nucleic acid capture probes. Generally, microarray hybridization is performed by hybridizing a nucleic acid of interest
(e.g., a nucleic acid encompassing a polymorphic site) with the array and detecting hybridization using nucleic acid probes. In some cases, the nucleic acid of interest is amplified prior to hybridization. Hybridization and detecting are generally carried out according to standard methods. See, e.g., Published PCT Application Nos. WO 92/10092 and WO 95/11995, and U.S. Pat. No. 5,424,186. For example, the array can be scanned to determine the position on the array to which the nucleic acid hybridizes. The hybridization data obtained from the scan is typically in the form of fluorescence intensities as a function of location on the array.
Arrays can be formed on substrates fabricated with materials such as paper, glass, plastic (e.g., polypropylene, nylon, or polystyrene), polyacrylamide, nitrocellulose, silicon, optical fiber, or any other suitable solid or semisolid support, and can be configured in a planar (e.g., glass plates, silicon chips) or three dimensional (e.g., pins, fibers, beads, particles, microtiter wells, capillaries) configuration. Methods for generating arrays are known in the art and include, e.g., photolithographic methods (see, e.g., U.S. Patent Nos. 5,143,854; 5,510,270; and 5,527,681), mechanical methods (e.g., directed-flow methods as described in U.S. Patent No. 5,384,261), pin-based methods (e.g., as described in U.S. Pat. No. 5,288,514), and bead-based techniques (e.g., as described in PCT US/93/04145). The array typically includes oligonucleotide hybridization probes capable of specifically hybridizing to different polymorphic variants. Oligonucleotide probes that exhibit differential or selective binding to polymorphic sites may readily be designed by one of ordinary skill in the art. For example, an oligonucleotide that is perfectly complementary to a sequence that encompasses a polymorphic site (i.e., a sequence that includes the polymorphic site, within it or at one end) will generally hybridize preferentially to a nucleic acid comprising that sequence, as opposed to a nucleic acid comprising an alternate polymorphic variant.
Oligonucleotide probes forming an array may be attached to a substrate by any number of techniques, including, without limitation, (i) in situ synthesis (e.g., high-density oligonucleotide arrays) using photolithographic techniques; (ii) spotting/printing at medium to low density on glass, nylon or nitrocellulose; (iii) by masking, and (iv) by dot-blotting on a nylon or nitrocellulose hybridization membrane. Oligonucleotides can be immobilized via a linker, including by covalent, ionic, or physical linkage. Linkers for immobilizing nucleic acids and polypeptides, including reversible or cleavable linkers, are known in the art. See, for example, U.S. Patent No. 5,451 ,683 and WO98/20019. Alternatively, oligonucleotides can be non- covalently immobilized on a substrate by hybridization to anchors, by means of magnetic beads, or in a fluid phase such as in microtiter wells or capillaries. Immobilized oligonucleotide probes are typically about 20 nucleotides in length, but can vary from about 10 nucleotides to about 1000 nucleotides in length. Arrays can include multiple detection blocks (i.e., multiple groups of probes designed for detection of particular polymorphisms). Such arrays can be used to analyze multiple different polymorphisms. Detection blocks may be grouped within a single array or in multiple, separate arrays so that varying conditions (e.g., conditions optimized for particular polymorphisms) may be used during the hybridization. For example, it may be desirable to provide for the detection of those polymorphisms that fall within G-C rich stretches of a genomic sequence, separately from those falling in A-T rich segments. General descriptions of using oligonucleotide arrays for detection of polymorphisms can be found, for example, in U.S. Pat. Nos. 5,858,659 and 5,837,832. In addition to oligonucleotide arrays, cDNA arrays may be used similarly in certain embodiments. The methods described herein can include providing an array as described herein; contacting the array with a sample (e.g., a portion of genomic DNA that includes at least a portion of a human chromosome) and/or optionally, a different portion of genomic DNA (e.g., a portion that includes a different portion of a human chromosome, e.g., including another region associated with BD and/or SZ), and detecting binding of a nucleic acid from the sample to the array. Optionally, the method includes amplifying nucleic acid from the sample, e.g., genomic DNA that includes a portion of a human chromosome described herein, and, optionally, a region that includes another region associated with BD and/or SZ, prior to or during contact with the array.
In some aspects, the methods described herein can include using an array that can ascertain differential expression patterns or copy numbers of one or more genes in samples from normal and affected individuals (see, e.g., Redon et al, Nature 444(71 18):444-54 (2006)). For example, arrays of probes to a marker described herein can be used to measure polymorphisms between DNA from a subject having BD and/or SZ, and control DNA, e.g., DNA obtained from an individual that does not have BD and/or SZ, and has no risk factors for BD and/or SZ. Since the clones on the array contain sequence tags, their positions on the array are accurately known relative to the genomic sequence. Different hybridization patterns between DNA from an individual afflicted with BD and/or SZ and DNA from a normal individual at areas in the array corresponding to markers as described herein, and, optionally, one or more other regions associated with BD and/or SZ, are indicative of a risk of BD and/or SZ. Methods for array production, hybridization, and analysis are described, e.g., in Snijders et al., Nat. Genetics 29:263-264 (2001); Klein et al., Proc. Natl Acad. ScL USA 96:4494-4499 (1999); Albertson et al., Breast Cancer Research and Treatment 78:289-298 (2003); and Snijders et al., "BAC microarray based comparative genomic hybridization," in: Zhao et al. (eds), Bacterial Artificial Chromosomes: Methods and Protocols , Methods in Molecular Biology, Humana Press, 2002. In another aspect, this document provides methods of determining the absence or presence of an allele or genotype associated with BD and/or SZ as described herein, using an array described above. The methods can include providing a two dimensional array having a plurality of addresses, each address of the plurality being positionally distinguishable from each other address of the plurality having a unique nucleic acid capture probe, contacting the array with a first sample from a test subject who is suspected of having or being at risk for BD and/or SZ, and comparing the binding of the first sample with one or more references, e.g., binding of a sample from a subject who is known to have BD and/or SZ, and/or binding of a sample from a subject who is unaffected, e.g., a control sample from a subject who neither has, nor has any risk factors for BD and/or SZ. In some embodiments, the methods can include contacting the array with a second sample from a subject who has BD and/or SZ; and comparing the binding of the first sample with the binding of the second sample. In some embodiments, the methods can include contacting the array with a third sample from a cell or subject that does not have BD and/or SZ and is not at risk for BD and/or SZ; and comparing the binding of the first sample with the binding of the third sample. In some embodiments, the second and third samples are from first or second-degree relatives of the test subject. In the case of a nucleic acid hybridization, binding with a capture probe at an address of the plurality, can be detected by any method known in the art, e.g., by detection of a signal generated from a label attached to the nucleic acid. Bipolar Disorder and Schizophrenia Spectrum Disorders
The methods described herein can be used to determine a differential diagnosis based on the presence or absence of an allele or genotype associated with BD or with a schizophrenia spectrum disorder (SSD). The SSDs include schizophrenia (SZ), schizotypal personality disorder (SPD), and schizoaffective disorder (SD). Methods for diagnosing SSDs are known in the art, see, e.g., the Diagnostic and Statistical Manual of Mental Disorders- Fourth Edition ("DSM-IV"). See also, e.g., WO 2009/092032, incorporated herein by reference.
Bipolar Disorder, which is also known as manic-depression or manic-depressive disorder, is characterized by mood that alternates between two emotional extremes, or poles: the sadness of depression and the euphoria of mania (see symptoms of mania below).
People with bipolar disorder experience a wide range of feelings depending on the phase of the illness is present. Between these emotional swings, there are periods when a person's mood is quite normal. During the depressed phase of bipolar illness, the individual will have the same symptoms as those found in major depressive disorder, and the symptoms can be severe. The individual may have despondent mood, a loss of energy, feelings of worthlessness or guilt, or problems with concentration. Thoughts of suicide are not uncommon. In fact, 10% to 15% of those with bipolar disorder may die by suicide.
During the manic phase, the individual experiences mood that is extremely elevated, expansive, or irritable. Mania can seriously impair one's normal judgment, and the individual may not be able to realize the harm of his or her behavior and may even lose touch with reality. The individual becomes euphoric, ideas come much too fast, and concentration is nearly impossible. The individual's judgment is impaired, and he or she may behave recklessly without a sense of consequence. If a person with bipolar disorder experiences a severe manic episode, he or she may be abusive to children, spouses, or engage in other violent behaviors. When this happens, people often need to be hospitalized for their own safety and for the safety of others. There may also be problems with attendance and performance at school or work, as well as significant difficulties in personal relationships.
There are two types of bipolar disorder. Bipolar I Disorder is diagnosed when a person has had at least one manic or mixed episode, often along with a major depressive episode. It affects equal numbers of men and women in approximately 0.4% to 1.6% of the population. Bipolar II Disorder is diagnosed when a person has had a major depressive episode along with at least one hypomanic episode. It affects more women than men in about 0.5% of the population. Bipolar I disorder affects equal numbers of males and females, however there does appear to be a gender difference in the onset of the illness. Females are more likely to experience a first episode of depression, while males tend to have a first episode that is manic. Women who have bipolar I or II disorder and who have children may be at a higher risk of experiencing bipolar episodes within several months of giving birth. Of adolescents who have recurrent major depressive episodes, about 10%- 15% of them will likely develop bipolar disorder. People who have immediate relatives with bipolar I disorder have a higher risk of developing a mood disorder themselves. F or these people, the rate of developing bipolar II disorder or major depression is 4%-24% and bipolar I disorder is l%-5%.
The cycles of bipolar disorder may be different for each person. Oftentimes a person may first experience depression. Depression may then be replaced with manic symptoms, and the cycle between depression and mania may continue for days, weeks, or months. Between phases of depression and mania some people return to their normal mood. Some others have several periods of either depression or mania. Still others may experience several bouts of depression with infrequent phases of hypomania, or repeated manic episodes with occasional depressive periods. A portion of people, roughly 10% to 20% may only experience mania, while others can have both depression and mania at the same time. For at least 90% of those who have bipolar disorder the condition is recurrent. They will experience future symptoms of the cycles of mania and depression. Approximately 60%-70% of manic episodes may happen just before or after a depressive episode, and this pattern may happen in a particular way for each person. Most people return to a regular level of functioning between episodes, while some (about 20%- 30%) may continue to have some problems with mood stability and social and occupational functioning.
Diagnostic Criteria of Bipolar I Disorder
Diagnostic criteria for bipolar I disorder are known in the art. The following is summarized from the Diagnostic and Statistical Manual of Mental Disorders- Fourth Edition.
A. A person experiences a current or recent episode that is manic, hypomanic, mixed, or depressed. 1. To be a manic episode, for at least one week a person's mood must be out of the ordinary and continuously heightened, exaggerated, or irritable.
2. At least three of the following seven symptoms have been significant and enduring. If the mood is only irritable, then four symptoms are required. a. Self-esteem is excessive or grandiose. b. The need for sleep is greatly reduced. c. Talks much more than usual. d. Thoughts and ideas are continuous and without a pattern or focus. e. Easily distracted by unimportant things. f. An increase in purposeful activity or productivity, or behaving and feeling agitated. g. Reckless participation in enjoyable activities that create a high risk for negative consequences (e.g., extensive spending sprees, sexual promiscuity).
3. The person's symptoms do not indicate a mixed episode. 4. The person's symptoms are a cause of great distress or difficulty in functioning at home, work, or other important areas. Or, the symptoms require the person to be hospitalized to protect the person from harming himself/herself or others. Or, the symptoms include psychotic features (hallucinations, delusions).
5. The person's symptoms are not caused by substance use (e.g., alcohol, drugs, medication), or a medical disorder.
B. Unless this is a first single manic episode there has been at least one manic, mixed, hypomanic, or depressive episode.
1. For a major depressive episode a person must have experienced at least five of the nine symptoms below for the same two weeks or more, for most of the time almost every day, and this is a change from his/her prior level of functioning. One of the symptoms must be either (a) depressed mood, or (b) loss of interest. a. Depressed mood. For children and adolescents, this may be irritable mood. b. A significantly reduced level of interest or pleasure in most or all activities. c. A considerable loss or gain of weight (e.g., 5% or more change of weight in a month when not dieting). This may also be an increase or decrease in appetite. For children, they may not gain an expected amount of weight. d. Difficulty falling or staying asleep (insomnia), or sleeping more than usual (hypersomnia). e. Behavior that is agitated or slowed down. Others should be able to observe this. f. Feeling fatigued, or diminished energy. g. Thoughts of worthlessness or extreme guilt (not about being ill). h. Ability to think, concentrate, or make decisions is reduced. i. Frequent thoughts of death or suicide (with or without a specific plan), or attempt of suicide.
2. The persons' symptoms do not indicate a mixed episode.
3. The person's symptoms are a cause of great distress or difficulty in functioning at home, work, or other important areas.
4. The person's symptoms are not caused by substance use (e.g., alcohol, drugs, medication), or a medical disorder.
5. The person's symptoms are not due to normal grief or bereavement over the death of a loved one, they continue for more than two months, or they include great difficulty in functioning, frequent thoughts of worthlessness, thoughts of suicide, symptoms that are psychotic, or behavior that is slowed down (psychomotor retardation).
C. Another disorder does not better explain the episode.
Diagnostic Criteria of Bipolar II Disorder
Diagnostic criteria for bipolar II disorder are known in the art. The following is summarized from the Diagnostic and Statistical Manual of Mental Disorders- Fourth Edition.
A. The person currently has, or in the past has had at least one major depressive episode:
1. For a major depressive episode a person must have experienced at least five of the nine symptoms below for the same two weeks or more, for most of the time almost every day, and this is a change from his/her prior level of functioning. One of the symptoms must be either (a) depressed mood, or (b) loss of interest. a. Depressed mood. For children and adolescents, this may be irritable mood. b. A significantly reduced level of interest or pleasure in most or all activities. c. A considerable loss or gain of weight (e.g., 5% or more change of weight in a month when not dieting). This may also be an increase or decrease in appetite. For children, they may not gain an expected amount of weight. d. Difficulty falling or staying asleep (insomnia), or sleeping more than usual
(hypersomnia). e. Behavior that is agitated or slowed down. Others should be able to observe this. f. Feeling fatigued, or diminished energy. g. Thoughts of worthlessness or extreme guilt (not about being ill), h. Ability to think, concentrate, or make decisions is reduced, i. Frequent thoughts of death or suicide (with or without a specific plan), or attempt of suicide.
2. The persons' symptoms do not indicate a mixed episode. 3. The person's symptoms are a cause of great distress or difficulty in functioning at home, work, or other important areas.
4. The person's symptoms are not caused by substance use (e.g., alcohol, drugs, medication), or a medical disorder.
5. The person's symptoms are not due to normal grief or bereavement over the death of a loved one, they continue for more than two months, or they include great difficulty in functioning, frequent thoughts of worthlessness, thoughts of suicide, symptoms that are psychotic, or behavior that is slowed down (psychomotor retardation).
B. The person currently has, or in the past has had at least one hypomanic episode: 1. For a hypomanic episode a person's mood must be out of the ordinary and continuously heightened, exaggerated, or irritable for at least four days. 2. At least three of the following seven symptoms have been significant and enduring. If the mood is only irritable, then four symptoms are required. a. Self-esteem is excessive or grandiose. b. The need for sleep is greatly reduced. c. Talks much more than usual. d. Thoughts and ideas are continuous and without a pattern or focus. e. Easily distracted by unimportant things. f. An increase in purposeful activity or productivity, or behaving and feeling agitated. g. Reckless participation in enjoyable activities that create a high risk for negative consequences (e.g., extensive spending sprees, sexual promiscuity).
3. The episode is a substantial change for the person and uncharacteristic of his or her usual functioning.
4. The changes of functioning and mood can be observed by others. 5. The person's symptoms are NOT severe enough to cause difficulty in functioning at home, work, or other important areas; the symptoms neither require the person to be hospitalized, nor are there any psychotic features.
6. The person's symptoms are not caused by substance use (e.g., alcohol, drugs, medication), or a medical disorder.
C. The person has never experienced a manic or mixed episode.
D. Another disorder does not better explain the episode.
E. The symptoms are a cause of great distress or difficulty in functioning at home, work, or other important areas.
Communicating Risk Assessment
This document also provides methods and materials to assist medical or research professionals in determining whether or not a subject has or is at risk for developing BD and/or SZ. Medical professionals can be, for example, doctors, nurses, medical laboratory technologists, and pharmacists. Research professionals can be, for example, principle investigators, research technicians, postdoctoral trainees, and graduate students. A professional can be assisted by (1) determining whether specific polymorphic variants are present in a biological sample from a subject, and (2) communicating information about polymorphic variants to that professional. After information about specific polymorphic variants is reported, a medical professional can take one or more actions that can affect patient care. For example, a medical professional can record information in the patient's medical record regarding the diagnosis or risk of the patient to develop BD and/or SZ. In some cases, a medical professional can record information regarding risk assessment, or otherwise transform the patient's medical record, to reflect the patient's current medical condition. In some cases, a medical professional can review and evaluate a patient's entire medical record and assess multiple treatment strategies for clinical intervention of a patient's condition.
A medical professional can initiate or modify treatment after receiving information regarding a patient's diagnosis of or risk of developing BD and/or SZ, for example. In some cases, a medical professional can recommend a change in therapy. In some cases, a medical professional can enroll a patient in a clinical trial for, by way of example, detecting correlations between an allele or genotype as described herein and any measurable or quantifiable parameter relating to the outcome of the treatment as described above.
A medical professional can communicate information regarding a patient's diagnosis of or risk of developing BD and/or SZ to a patient or a patient's family. In some cases, a medical professional can provide a patient and/or a patient's family with information regarding BD and/or SZ diagnosis and risk assessment information, including treatment options, prognosis, and referrals to specialists. In some cases, a medical professional can provide a copy of a patient's medical records to a specialist. A research professional can apply information regarding a subject's diagnosis of or risk of developing BD and/or SZ to advance scientific research. For example, a researcher can compile data on wild specific polymorphic variants. In some cases, a research professional can obtain a subject's allele(s) or genotype as described herein to evaluate a subject's enrollment, or continued participation, in a research study or clinical trial. In some cases, a research professional can communicate information regarding a subject's diagnosis of or risk of developing BD and/or SZ to a medical professional. In some cases, a research professional can refer a subject to a medical professional.
Any appropriate method can be used to communicate information to another person (e.g., a professional). For example, information can be given directly or indirectly to a professional. For example, a laboratory technician can input a patient's polymorphic variant allele(s) or genotype as described herein into a computer-based record. In some cases, information is communicated by making an physical alteration to medical or research records. For example, a medical professional can make a permanent notation or flag a medical record for communicating the risk assessment to other medical professionals reviewing the record. In addition, any type of communication can be used to communicate the risk assessment information. For example, mail, e-mail, telephone, and face-to-face interactions can be used. The information also can be communicated to a professional by making that information electronically available to the professional. For example, the information can be communicated to a professional by placing the information on a computer database such that the professional can access the information. In addition, the information can be communicated to a hospital, clinic, or research facility serving as an agent for the professional.
Articles of Manufacture
Also provided herein are articles of manufacture comprising a probe that hybridizes with a region of human chromosome as described herein and can be used to detect a polymorphism described herein. For example, any of the probes for detecting polymorphisms described herein can be combined with packaging material to generate articles of manufacture or kits. The kit can include one or more other elements including: instructions for use; and other reagents such as a label or an agent useful for attaching a label to the probe. Instructions for use can include instructions for diagnostic applications of the probe for making a diagnosis of or assessing risk of BD and/or SZ in a method described herein. Other instructions can include instructions for attaching a label to the probe, instructions for performing in situ analysis with the probe, and/or instructions for obtaining a sample to be analyzed from a subject. In some cases, the kit can include a labeled probe that hybridizes to a region of human chromosome as described herein. The kit can also include one or more additional reference or control probes that hybridize to the same chromosome or another chromosome or portion thereof that can have an abnormality associated with a particular endophenotype. A kit that includes additional probes can further include labels, e.g., one or more of the same or different labels for the probes. In other embodiments, the additional probe or probes provided with the kit can be a labeled probe or probes. When the kit further includes one or more additional probe or probes, the kit can further provide instructions for the use of the additional probe or probes. Kits for use in self-testing can also be provided. Such test kits can include devices and instructions that a subject can use to obtain a biological sample (e.g., buccal cells, blood) without the aid of a health care provider. For example, buccal cells can be obtained using a buccal swab or brush, or using mouthwash.
Kits as provided herein can also include a mailer (e.g., a postage paid envelope or mailing pack) that can be used to return the sample for analysis, e.g., to a laboratory. The kit can include one or more containers for the sample, or the sample can be in a standard blood collection vial. The kit can also include one or more of an informed consent form, a test requisition form, and instructions on how to use the kit in a method described herein. Methods for using such kits are also included herein. One or more of the forms (e.g., the test requisition form) and the container holding the sample can be coded, for example, with a bar code for identifying the subject who provided the sample.
Databases and Reports
Also provided herein are databases that include a list of polymorphisms as described herein, and wherein the list is largely or entirely limited to polymorphisms identified as useful for determining a diagnosis or susceptibility to BD and/or SZ as described herein. The list is stored, e.g., on a flat file or computer-readable medium. The databases can further include information regarding one or more subjects, e.g., whether a subject is affected or unaffected, clinical information such as endophenotype, age of onset of symptoms, any treatments administered and outcomes (e.g., data relevant to pharmacogenomics, diagnostics or theranostics), and other details, e.g., about the disorder in the subject, or environmental or other genetic factors. The databases can be used to detect correlations between a particular allele or genotype and the information regarding the subject.
The methods described herein can also include the generation of reports, e.g., for use by a patient, care giver, pay or, or researcher, that include information regarding a subject's response allele(s), and optionally further information such as treatments administered, treatment history, medical history, predicted response, and actual response. The reports can be recorded in a tangible medium, e.g., a computer-readable disk, a solid state memory device, or an optical storage device.
Engineered Cells
Also provided herein are engineered cells that harbor one or more polymorphism described herein, e.g., one or more polymorphisms associated with BD and/or SZ. Such cells are useful for studying the effect of a polymorphism on physiological function, and for identifying and/or evaluating potential therapeutic agents such as anti-psychotics for the treatment of BD and/or SZ.
As one example, included herein are cells in which one of the various alleles of the genes described herein has been re-created that is associated with an increased risk of BD and/or SZ. Methods are known in the art for generating cells, e.g., by homologous recombination between the endogenous gene and an exogenous DNA molecule introduced into a cell, e.g., a cell of an animal. In some cases, the cells can be used to generate transgenic animals using methods known in the art.
The cells are preferably mammalian cells (e.g., neuronal type cells) in which an endogenous gene has been altered to include a polymorphism as described herein. Techniques such as targeted homologous recombinations, can be used to insert the heterologous DNA as described in, e.g., Chappel, US 5,272,071; WO 91/06667, published in May 16, 1991.
EXAMPLES
The invention is further described in the following examples, which do not limit the scope of the invention described in the claims.
Example 1. Genotypes and Alleles that Contribute to Differential Diagnosis of BD versus SZ. Genotyping and phenotype data were obtained from the Genetic Analysis Information Network (GAIN) Database found at ncbi.nlm.nih.gov through dbGaP, at accession number PHS000017.vl.pl. Genotypes and associated phenotype data for the GAIN Genome-Wide Association Study of Schizophrenia were provided by P. Gejman, and genotyping of these samples was provided through the Genetic Association Information Network (GAIN). Data for 1018 BD cases, 1172 SZ cases and 1378 neurologically normal controls with Caucasian ancestry were evaluated for the GAIN sample.
To determine the significance of the relationship between each allele or genotype and diagnosis of either BD or SZ or BD vs SZ, Golden Helix's SNP and Variation Suite (SVS™) was used to determine a p- value using a trend/correlations test. This test showed the p-value for the dependent variable value having any correlation with or "trend", which depends on the (possibly PCA-corrected) count value of the genotype. (See below.) For case/control dependent variables, a "case" was considered to have a value of one, and a "control" was considered to have a value of zero. For the genotype predictor variable, the count values were as follows where the minor allele "D" is the allele shown in the table:
• Additive Model: The count of the minor allele D, which is zero within genotype dd, one within genotype Dd, and two within genotype DD, where d is the major allele.
• Dominant Model: The count is one for genotypes DD and Dd and zero for genotype dd.
• Recessive Model: The count is one for genotype DD and zero for genotypes Dd and dd.
Table 1 lists alleles and genotypes influencing differential diagnosis for BD versus SZ. 1018 BD cases and 1170 SZ cases were used to identify these polymorphisms. In brief, each BD case was coded as a 1 (or case) and each SZ case was coded as 0 (or control). The Genetic Association Information Network (GAIN), a partnership between the NIH and private companies, provided genome wide genotyping data for SZ and BP (database of Genotype and Phenotype (dbGaP). National Institutes of Health 2008, available on the NCBI website). Using this coding and genotypes and phenotypes provided by GAIN, case control analysis was performed using various genetic models (recessive, dominant and additive) in Golden Helix's SNP and Variation Suite v 7.0 (SVS™). Table 1 lists the gene, sequence ID, NCBI RS number, test allele, genetic model, odds ratio (OR), and p-value for the comparison. In this example, an OR greater than 1 indicates that the subject has a greater likelihood of a BD diagnosis than a SZ diagnosis. Similarly, an OR less than 1 indicates that the subject has a lower likelihood of a BD diagnosis than a SZ diagnosis. TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
KIFlB 1 1555849 G RECESSIVE 0 0168627 0 72
PRDM2 2 876931 C DOMINANT 0 0174243 1 25
RP1-21O18 1 3 12035178 G ADDITIVE 0 0068159 0 81
RP1-21O18 1 4 6663699 G ADDITIVE 0 0217698 0 86
EPHB2 9 309473 T RECESSIVE 0 0303631 1 25
EPHB2 10 309471 G RECESSIVE 0 0174109 1 28
CLIC4 11 3131502 A RECESSIVE 0 0372989 1 38
CLIC4 12 9259 C RECESSIVE 0 0162138 1 43
AGBL4-C1ORF165 19 3122291 T RECESSIVE 0 0056129 0 71
AGBL4-C1ORF165 20 3121512 C RECESSIVE 0 0178332 0 77
AGBL4-C1ORF165 21 3118215 A RECESSIVE 00347862 078
AGBL4-C1ORF165 22 3118223 G RECESSIVE 0 0270175 0 77
AGBL4-C1ORF165 23 3121273 G RECESSIVE 0 0354423 0 79
AGBL4-C1ORF165 24 3127556 G RECESSIVE 0 0312224 0 78
AGBL4-C1ORF165 25 3121518 A RECESSIVE 0 0227865 0 76
AGBL4-C1ORF165 26 6669433 A RECESSIVE 0 0349819 0 78
AGBL4-C1ORF165 27 7520773 T RECESSIVE 0 0050132 0 68
SLC6A17 41 495959 T ADDITIVE 0 0121511 0 88
SLCl 6 A4 42 10857820 A RECESSIVE 0 0103223 1 32
SLCl 6 A4 43 4498805 G ADDITIVE 0 0243463 0 86
KCNAlO 45 3748731 A ADDITIVE 0 0188446 1 16
SLC22A15 52 2488433 T ADDITIVE 0 0096888 1 38
SLC22A15 54 3748743 A ADDITIVE 0 0148878 1 42
CGN 59 1547832 A DOMINANT 0 0148568 0 78
CGN 60 10788807 G DOMINANT 0 0154457 0 78
CGN 62 1418823 T DOMINANT 0 0375351 0 70
ATF6 63 905594 T ADDITIVE 0 0234906 0 86
ATF6 64 2070151 T DOMINANT 0 0499978 0 78
ATF6 65 1553443 C DOMINANT 0 0315353 0 75
ATF6 67 12405111 A ADDITIVE 0 0338357 0 78
ATF6 69 7530997 A DOMINANT 0 0370491 0 77
ATF6 70 12401299 G ADDITIVE 0 0486075 0 82
ATF6 71 16856629 G ADDITIVE 0 0437555 0 80
ATF6 72 7552420 C ADDITIVE 0 0486075 0 82
ATF6 73 12028953 T DOMINANT 0 0489870 0 78
ATF6 74 10918214 G ADDITIVE 0 0491995 0 87
ATF6 75 10918215 G ADDITIVE 0 0491995 0 87
ATF6 76 10753686 A ADDITIVE 0 0491995 0 87
ATF6 77 4657124 G ADDITIVE 0 0409751 0 86
ATF6 78 4657125 C ADDITIVE 0 0491995 0 87
FAM78B 85 12030964 T DOMINANT 0 0345563 0 82
FAM78B 86 10494453 A RECESSIVE 0 0286683 0 67
FAM78B 87 9787101 T RECESSIVE 0 0303146 0 68
FAM78B 88 715421 A RECESSIVE 0 0149449 0 64
FAM78B 89 10800198 C RECESSIVE 0 0175647 0 65
DPT 90 511187 G ADDITIVE 0 0264861 0 88
SEC16B 91 1889981 A ADDITIVE 0 0217462 1 16
CACNAlE 96 199960 T DOMINANT 0 0290569 0 83
CACNAlE 97 3766983 C DOMINANT 0 0438431 0 83
CACNAlE 98 4652675 G DOMINANT 0 0193933 0 82
CACNAlE 99 3845444 G DOMINANT 0 0461923 0 84
CACNAlE 100 3843280 G ADDITIVE 0 0219374 0 84
CACNAlE 101 704329 A RECESSIVE 0 0256218 1 26 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
CACNAlE 102 546191 T ADDITIVE 0 0134889 0 89
PLA2G4A 121 6662687 A RECESSIVE 0 0323279 0 78
KCNHl 122 1340128 C ADDITIVE 0 0287026 0 87
KCNHl 124 1777256 A ADDITIVE 0 0433741 0 90
KCNHl 128 17267442 T RECESSIVE 0 0218244 0 69
KCNK2 131 10864143 A RECESSIVE 0 0246322 1 39
USH2A 142 17025416 T RECESSIVE 0 0304882 4 73
ESRRG 143 12027901 C DOMINANT 0 0438998 0 81
SLC35F3 145 6688304 A ADDITIVE 0 0075880 0 82
SLC35F3 146 1463501 G ADDITIVE 0 0136990 0 84
SLC35F3 147 1563693 G ADDITIVE 00092743 0 83
SLC35F3 148 9435569 T ADDITIVE 0 0075579 0 82
SLC35F3 149 6674291 C ADDITIVE 0 0107637 0 85
SLC35F3 150 480993 T RECESSIVE 0 0463714 0 76
GNG4 151 508208 G ADDITIVE 0 0133270 0 88
GNG4 152 7554426 G DOMINANT 0 0266180 1 22
GNG4 153 7554532 G DOMINANT 0 0336946 1 21
RYR2 154 6684412 C DOMINANT 0 0000058 1 49
RYR2 155 884641 T ADDITIVE 0 0242126 0 84
CHRM3 159 12097526 T DOMINANT 0 0021341 0 77
FMN2 160 897662 T DOMINANT 0 0069240 0 79
FMN2 161 10926188 G DOMINANT 0 0074822 0 79
FMN2 165 10495466 A ADDITIVE 0 0270938 1 34
RGS7 166 2815871 T RECESSIVE 0 0099288 2 30
PLD5 167 2343119 A DOMINANT 0 0046930 1 30
PLD5 168 7542270 G DOMINANT 0 0215593 1 23
C2ORF46 169 11684514 T DOMINANT 0 0205265 1 31
C2ORF46 170 7577544 G DOMINANT 0 0039917 1 38
C2ORF46 171 11677028 G DOMINANT 0 0068260 1 36
DDEF2 172 11686324 T DOMINANT 0 0173768 1 23
DDEF2 173 2356779 A DOMINANT 0 0098345 1 25
DDEF2 174 2666218 G DOMINANT 0 0130585 1 24
DDEF2 175 6431996 C DOMINANT 0 0139985 1 24
DDEF2 176 16866981 G RECESSIVE 0 0219219 1 34
DDEF2 177 17627209 G ADDITIVE 0 0219751 1 15
DDEF2 178 10177742 A RECESSIVE 0 0262729 1 33
DDEF2 179 4610024 G RECESSIVE 0 0393906 1 29
DDEF2 180 17673165 G ADDITIVE 0 0405321 1 14
DDEF2 181 6743955 C RECESSIVE 0 0301506 1 32
DDEF2 182 10172687 T RECESSIVE 0 0296340 1 32
DDEF2 183 6736216 G RECESSIVE 0 0219219 1 34
DDEF2 184 13414373 G RECESSIVE 0 0365651 1 31
DDEF2 185 3811599 C RECESSIVE 0 0310306 1 32
DDEF2 186 4627537 T RECESSIVE 0 0463321 1 29
DDEF2 187 17522163 A ADDITIVE 0 0344479 1 17
DDEF2 188 10181704 T RECESSIVE 0 0350575 1 31
DDEF2 189 4392227 G ADDITIVE 0 0345107 1 17
DDEF2 190 13424953 T RECESSIVE 0 0196379 1 35
DDEF2 191 4599081 G RECESSIVE 0 0294499 2 38
KLHL29 198 6742888 C ADDITIVE 0 0348988 0 88
KLHL29 199 7564616 G ADDITIVE 0 0438533 0 88
KLHL29 200 893430 G ADDITIVE 0 0328464 0 92
KLHL29 201 747345 A ADDITIVE 0 0428263 0 90 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
KLHL29 202 737565 A ADDITIVE 0 0321218 0 93
KLHL29 203 747344 G ADDITIVE 0 0405452 0 93
KLHL29 204 6726802 A ADDITIVE 0 0093161 0 86
KLHL29 205 7573494 G ADDITIVE 0 0330346 0 91
KLHL29 206 7570872 G ADDITIVE 0 0110811 0 87
KLHL29 207 6544857 C ADDITIVE 0 0109959 0 86
KLHL29 208 10178369 A RECESSIVE 0 0078072 0 59
KLHL29 209 11125053 G RECESSIVE 0 0431439 0 75
ASXL2 211 7599961 C DOMINANT 0 0448173 1 19
ASXL2 212 12987707 A DOMINANT 0 0494199 1 21
CIB4 213 11694917 T RECESSIVE 00346178 709
BRE 219 10168171 A DOMINANT 0 0052977 0 77
BRE 220 10180107 T DOMINANT 0 0028722 0 76
BRE 221 6738887 C ADDITIVE 0 0484749 0 89
BRE 222 12617913 C DOMINANT 0 0403340 0 83
CRIMl 231 848532 C ADDITIVE 0 0300993 1 10
CRIMl 232 848531 A ADDITIVE 0 0304785 1 10
CRIMl 236 3755197 A RECESSIVE 0 0362269 1 33
PLEKHH2 258 6753626 T DOMINANT 0 0468983 0 80
PLEKHH2 259 7570252 A DOMINANT 0 0433193 0 84
PLEKHH2 260 10165660 C DOMINANT 0 0058234 0 79
C2ORF34 265 1067343 A RECESSIVE 0 0337422 1 46
C2ORF34 269 1067378 A RECESSIVE 0 0419640 1 44
C2ORF34 270 1067375 C RECESSIVE 0 0332333 1 47
C2ORF34 271 1067374 G RECESSIVE 0 0414616 1 45
C2ORF34 276 1067348 T RECESSIVE 0 0405977 1 49
C2ORF34 280 1067402 T RECESSIVE 0 0311285 1 52
C2ORF34 282 698792 A RECESSIVE 0 0404097 1 50
C2ORF34 284 698793 C RECESSIVE 0 0497570 1 41
C2ORF34 299 1377906 G RECESSIVE 0 0180084 1 38
C2ORF34 300 7609431 C RECESSIVE 0 0101792 1 41
C2ORF34 301 4953101 T RECESSIVE 0 0476874 1 32
C2ORF34 302 10188972 T RECESSIVE 0 0489810 1 31
PRKCE 309 4953294 A ADDITIVE 0 0493338 1 10
EPASl 313 13006131 G RECESSIVE 0 0402451 0 81
PSME4 314 805316 C RECESSIVE 0 0400115 1 40
ACYP2 315 10186140 C RECESSIVE 0 0264937 0 21
CCDC85A 316 13432055 C RECESSIVE 0 0100911 1 50
COMMDl 317 11885927 A RECESSIVE 0 0241086 0 41
AAKl 322 4852272 T DOMINANT 0 0303217 0 83
AAKl 323 2312213 G DOMINANT 0 0460414 0 84
AAKl 324 3821277 G DOMINANT 0 0377504 0 83
AAKl 325 4852868 T DOMINANT 0 0488927 0 84
AAKl 326 6736776 T RECESSIVE 0 0027341 0 61
CTNNA2 328 3795994 A RECESSIVE 0 0330763 1 28
CTNN A2 329 4541274 C RECESSIVE 0 0476626 1 28
NAP5 346 12478698 C DOMINANT 0 0005561 0 74
NAP5 349 7559118 C RECESSIVE 0 0229795 1 70
RAB3GAP1 354 2305594 G ADDITIVE 0 0430480 0 81
LRPlB 359 2171169 A ADDITIVE 0 0158790 0 83
LRPlB 360 3749010 T ADDITIVE 0 0126393 0 78
LRPlB 361 12691587 A RECESSIVE 0 0082097 1 35
LRPlB 362 1525600 T RECESSIVE 0 0231176 1 30 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
LRPlB 363 1525598 A RECESSIVE 0 0217906 1 30
LRPlB 365 352973 A DOMINANT 0 0320322 0 83
LRPlB 371 2029142 A DOMINANT 0 0001309 0 70
LRPlB 372 4662370 T DOMINANT 0 0232464 0 82
LRPlB 373 1900933 A DOMINANT 0 0011840 0 73
LRPlB 374 10928134 C DOMINANT 0 0174066 0 81
LRPlB 375 7558803 A DOMINANT 0 0005023 0 71
LRPlB 376 1449478 C DOMINANT 0 0005212 0 71
LRPlB 377 13418304 A DOMINANT 0 0299440 0 78
LRPlB 378 11680286 A DOMINANT 0 0001878 0 69
LRPlB 379 1375613 T RECESSIVE 0 0098351 1 30
LRPlB 380 12691633 T DOMINANT 0 0117205 0 76
LRPlB 381 2290140 T DOMINANT 0 0082539 0 79
KYNU 383 351685 C RECESSIVE 0 0264489 2 52
KYNU 384 352892 T RECESSIVE 0 0349849 0 76
ARHGAP 15 385 11681284 C RECESSIVE 0 0329951 0 74
ARHGAP 15 386 6732131 A RECESSIVE 0 0062475 0 68
ARHGAP 15 387 11694505 G RECESSIVE 0 0058840 0 62
ARHGAP 15 388 6745691 G RECESSIVE 0 0040745 0 67
ARHGAP 15 389 6750323 C RECESSIVE 0 0031136 0 67
ARHGAP 15 390 4662343 A RECESSIVE 0 0145068 0 72
ARHGAP 15 391 16823036 A DOMINANT 0 0392608 1 20
ARHGAP 15 392 16823114 A DOMINANT 0 0470151 1 19
ARHGAP 15 393 10928200 T DOMINANT 0 0406542 1 20
KCNJ3 399 12995382 C DOMINANT 0 0487689 1 19
PKP4 400 6437186 T RECESSIVE 0 0342404 7 11
PKP4 401 2528575 A DOMINANT 0 0403036 1 20
PLA2R1 402 6432570 T DOMINANT 0 0103076 0 78
PLA2R1 403 3828324 C DOMINANT 0 0296821 0 81
SCN3A 411 17829626 A RECESSIVE 0 0403437 0 61
SCN2A 413 4667810 G DOMINANT 0 0020017 1 32
SCN2A 414 4667485 C DOMINANT 0 0035559 1 31
SCN2A 415 10181853 T DOMINANT 0 0019952 1 32
SCNlA 416 1824551 C RECESSIVE 0 0282465 0 75
SCNlA 417 1841549 C RECESSIVE 0 0321010 0 64
SCNlA 418 7607543 C RECESSIVE 0 0339116 0 65
SCNlA 419 1461197 A RECESSIVE 0 0386158 0 76
SCNlA 420 1824549 G RECESSIVE 0 0283570 0 75
SCNlA 421 1381105 G RECESSIVE 0 0314593 0 75
SCN9A 422 4303728 A RECESSIVE 0 0169081 0 19
SCN7A 426 3579 A DOMINANT 0 0076308 0 74
SCN7A 427 13397124 T DOMINANT 0 0155437 0 80
SCN7A 428 13029092 T DOMINANT 0 0027898 0 74
SCN7A 429 13017982 C DOMINANT 0 0021760 0 74
SCN7A 430 13022308 A DOMINANT 0 0235060 0 80
SCN7A 431 2593529 C DOMINANT 0 0036914 0 75
PDElA 433 12693301 G DOMINANT 0 0027198 0 77
PDElA 434 12988258 A DOMINANT 0 0169140 0 81
PDElA 435 6736414 T DOMINANT 0 0018837 0 76
PDElA 436 6718589 T DOMINANT 0 0079529 0 79
PDElA 437 6719036 A DOMINANT 0 0017120 0 75
PDElA 439 1430158 C RECESSIVE 0 0462373 0 74
NABl 441 16832766 A RECESSIVE 0 0084389 < 2 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
TMEFF2 442 10497725 C DOMINANT 0 0468195 1 19
TMEFF2 443 13004835 G RECESSIVE 0 0187116 1 26
TMEFF2 444 17433337 A DOMINANT 0 0138373 0 79
PARD3B 450 1861763 C RECESSIVE 0 0402838 0 55
PARD3B 451 1019357 G RECESSIVE 0 0103151 0 45
PARD3B 452 236843 G DOMINANT 0 0273232 1 23
NRP2 457 849565 C RECESSIVE 0 0031073 1 92
PIP5K3 458 6746926 A DOMINANT 0 0076853 1 28
ERBB4 459 12992319 A DOMINANT 0 0400316 0 84
IRSl 462 2288587 C DOMINANT 0 0077855 0 67
IRSl 463 16822570 G DOMINANT 0 0077855 0 67
IRSl 464 16822574 T ADDITIVE 0 0429294 0 75
IRSl 465 10205233 T ADDITIVE 0 0131742 0 69
IRSl 466 10181778 T ADDITIVE 0 0014551 0 63
IRSl 467 13414359 G RECESSIVE 0 0185113 0 25
IRSl 468 2396427 G RECESSIVE 0 0434814 0 29
COL4A4 469 1054413 A DOMINANT 0 0093344 0 79
COL4A4 470 10187726 T RECESSIVE 0 0499004 1 22
COL4A4 471 4423583 T DOMINANT 0 0104595 0 79
COL4A4 472 10182307 A DOMINANT 0 0101423 0 79
COL4A4 473 10933165 G DOMINANT 0 0159812 0 80
COL4A4 474 6740108 C DOMINANT 0 0084746 0 78
COL4A4 475 1949807 G DOMINANT 0 0039806 0 77
COL4A4 476 2272198 T DOMINANT 0 0088794 0 79
COL4A4 477 10176882 T DOMINANT 0 0153786 0 80
COL4A4 478 13423714 G DOMINANT 0 0109821 0 79
COL4A4 479 2276593 A DOMINANT 0 0121443 0 79
COL4A4 480 10166736 A DOMINANT 0 0102444 0 79
COL4A4 481 13383070 A DOMINANT 0 0046153 0 77
COL4A3 483 6436672 A DOMINANT 0 0484551 1 26
COL4A3 484 4673188 T DOMINANT 0 0419728 1 25
COL4A3 485 6436674 A DOMINANT 0 0221612 1 31
COL4A3 486 7587228 C DOMINANT 0 0347568 1 26
COL4A3 487 10188531 C DOMINANT 0 0221612 1 31
DNER 488 207671 G RECESSIVE 0 0221000 1 27
DNER 490 7584721 A DOMINANT 0 0306237 1 29
DNER 491 10170426 T DOMINANT 0 0179298 1 30
DNER 492 11695348 A DOMINANT 0 0208254 1 32
ECELl 493 2678505 G RECESSIVE 0 0264454 0 21
SAG 495 13427703 G DOMINANT 0 0220575 0 78
CENTG2 499 1962550 G ADDITIVE 0 0450037 0 89
CNTN6 501 9840388 C RECESSIVE 0 0244837 0 79
CNTN6 506 3772274 T ADDITIVE 0 0304668 1 20
CNTN6 508 2291101 T ADDITIVE 0 0416503 1 15
CNTN6 509 2291100 C ADDITIVE 0 0003121 0 85
CNTN6 510 17038463 G DOMINANT 0 0381322 1 36
CNTN6 511 3845158 T DOMINANT 0 0285379 1 21
CNTN6 512 3816445 G DOMINANT 0 0364712 1 23
CNTN4 513 11129148 T ADDITIVE 0 0247728 0 89
CNTN4 514 2134356 C ADDITIVE 0 0101235 0 88
CNTN4 515 899540 G DOMINANT 0 0002858 1 42
CNTN4 516 2616585 T DOMINANT 0 0103108 1 27
CNTN4 517 9837469 G DOMINANT 0 0287880 0 81 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
CNTN4 520 4685542 C ADDITIVE 0 0499516 1 15
CNTN4 521 9837045 A DOMINANT 0 0224299 1 24
CNTN4 522 9843087 T DOMINANT 0 0407710 1 20
ITPRl 526 304014 A DOMINANT 0 0460660 0 84
ITPRl 527 13080068 A RECESSIVE 0 0234785 < 2
ITPRl 528 902985 C RECESSIVE 0 0389873 < 2
ITPRl 529 9818111 A RECESSIVE 0 0236952 < 2
ITPRl 530 3792489 A RECESSIVE 0 0339749 0 74
IRAK2 532 778041 A ADDITIVE 0 0238947 1 14
IRAK2 533 708035 T ADDITIVE 0 0196761 1 14
SLC6A11 535 1485142 C RECESSIVE 00092762 0 53
SLC6A1 536 1062246 G DOMINANT 0 0301978 0 83
SLC6A6 537 11713355 A DOMINANT 0 0495407 0 84
FBXL2 539 9880596 C DOMINANT 0 0014283 1 32
CLASP2 540 4679039 C RECESSIVE 0 0114555 0 72
CLASP2 541 6772776 T RECESSIVE 0 0498543 0 78
CLASP2 542 8179967 C ADDITIVE 0 0147798 0 87
CLASP2 543 6807542 G ADDITIVE 0 0266431 0 90
ULK4 553 2293301 G RECESSIVE 0 0428999 3 55
ULK4 554 2293300 C RECESSIVE 0 0248408 3 94
ULK4 555 9838277 G RECESSIVE 0 0430861 3 55
ULK4 556 12493870 C RECESSIVE 0 0430861 3 55
ULK4 557 9820239 T RECESSIVE 0 0397738 1 52
ULK4 559 1386601 G RECESSIVE 0 0459956 1 26
ULK4 560 9832048 A RECESSIVE 0 0411133 1 23
ZNF445 561 9311357 G RECESSIVE 0 0462402 1 33
CAMKV 564 2883059 C RECESSIVE 0 0170760 1 32
SEMA3F 565 2624842 G RECESSIVE 0 0015687 2 76
SEMA3F 566 11711407 A RECESSIVE 0 0018287 1 39
CACNA2D2 567 762895 C RECESSIVE 0 0018308 2 65
CACNA2D2 568 2298955 C RECESSIVE 0 0013825 2 64
CACNA2D2 569 734767 C RECESSIVE 0 0012152 2 67
CACNA2D2 570 2236964 G RECESSIVE 0 0073441 2 31
CACNA2D2 571 916217 T RECESSIVE 0 0100097 2 30
CACNA2D2 572 2236967 A RECESSIVE 0 0236960 2 06
CACNA2D2 573 743757 G RECESSIVE 0 0048367 2 39
CACNA2D2 574 2236975 C RECESSIVE 0 0043747 2 48
CACNA2D2 575 12492113 A RECESSIVE 0 0077768 2 49
CACNA2D2 576 6786523 T RECESSIVE 0 0003940 3 05
CACNA2D2 577 12494849 G RECESSIVE 0 0003948 3 05
CACNA2D2 578 1467913 T RECESSIVE 0 0003948 3 05
CACNA2D2 579 754298 C RECESSIVE 0 0304486 2 10
ERC2 587 11712729 C RECESSIVE 0 0260858 1 43
FHIT 591 11707783 G ADDITIVE 0 0482246 0 82
FHIT 592 6446100 T DOMINANT 0 0035376 0 77
FHIT 593 2736802 A DOMINANT 0 0392613 0 81
FHIT 594 212015 T ADDITIVE 0 0203327 0 81
FHIT 595 13066381 T DOMINANT 0 0083825 0 80
FHIT 596 802778 A ADDITIVE 0 0214893 0 80
FHIT 597 802779 C ADDITIVE 0 0432879 0 82
FHIT 598 17062392 C DOMINANT 0 0186053 1 23
FHIT 601 7650786 T RECESSIVE 0 0483484 1 24
FHIT 602 2142296 G ADDITIVE 0 0252880 0 88 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
PTPRG 603 1388613 C RECESSIVE 0 0291650 0 66
CADPS 604 304209 G DOMINANT 0 0406227 0 84
SYNPR 612 1812207 A DOMINANT 0 0082602 1 26
SYNPR 613 1505595 A RECESSIVE 0 0459095 1 58
ROBO2 624 4683968 G DOMINANT 0 0446194 1 20
ROBOl 626 329812 C RECESSIVE 0 0164134 1 39
ROBOl 627 162262 T RECESSIVE 0 0084565 1 43
ROBOl 628 1455833 A RECESSIVE 0 0493273 0 73
ROBOl 629 7631406 T RECESSIVE 0 0109668 0 68
ROBOl 630 12486635 G RECESSIVE 0 0408876 0 75
GBEl 632 9821673 A RECESSIVE 00292191 0 60
CBLB 635 1443108 T RECESSIVE 0 0351240 0 71
CBLB 636 1550711 G RECESSIVE 0 0404819 0 79
CBLB 637 7638504 C DOMINANT 0 0101111 0 77
CBLB 638 12497428 G DOMINANT 0 0135723 0 77
CBLB 639 9838755 C DOMINANT 0 0122254 0 77
KALRN 644 13321072 C DOMINANT 0 0396312 0 78
KALRN 645 2008839 A DOMINANT 0 0354175 0 77
KALRN 646 1822995 A ADDITIVE 0 0345649 1 24
KALRN 647 10433406 A ADDITIVE 0 0211886 1 24
KALRN 648 2289843 A ADDITIVE 0 0148873 1 26
KALRN 649 3729581 T DOMINANT 0 0351293 1 23
ZXDC 651 1043803 A DOMINANT 0 0333425 0 83
ZXDC 652 1687462 C DOMINANT 0 0266341 0 82
CPNE4 654 9289393 T RECESSIVE 0 0302037 1 26
CPNE4 655 16838031 A ADDITIVE 0 0008895 1 44
CPNE4 656 17297521 G DOMINANT 0 0130424 1 30
CPNE4 657 6806898 T ADDITIVE 0 0109104 1 26
EPHBl 671 3772637 T DOMINANT 0 0037323 1 28
SPSB4 672 9816809 T DOMINANT 0 0476394 1 26
SPSB4 673 11915229 C DOMINANT 0 0496640 1 26
SERPINIl 675 2229697 A DOMINANT 0 0434861 0 80
SLC7A14 676 7648588 A DOMINANT 0 0475929 0 83
TNIK 681 6445006 A RECESSIVE 0 0017287 0 52
PLDl 682 380929 A ADDITIVE 0 0362956 1 11
PLDl 683 397176 T ADDITIVE 0 0318479 1 12
PLDl 684 431196 C ADDITIVE 0 0322453 1 12
PLDl 685 406484 A ADDITIVE 0 0339780 1 11
PLDl 686 405910 T ADDITIVE 0 0195401 1 11
PLDl 687 360413 A ADDITIVE 0 0143963 1 15
PLDl 688 187229 T ADDITIVE 0 0118656 1 17
PLDl 689 181715 A ADDITIVE 0 0093281 1 19
PLDl 690 360401 T ADDITIVE 0 0114614 1 18
NLGNl 703 6779415 A DOMINANT 0 0412066 1 22
NLGNl 705 9815572 A ADDITIVE 0 0466970 1 17
NLGNl 706 7614469 C RECESSIVE 0 0177892 1 62
ILlRAP 710 4140708 G RECESSIVE 0 0320163 1 40
ILlRAP 711 3774001 G RECESSIVE 0 0214074 1 44
ILlRAP 712 3773999 C RECESSIVE 0 0175931 1 45
ILlRAP 713 9990231 C RECESSIVE 0 0048588 1 61
ILlRAP 714 10212103 C RECESSIVE 0 0173303 1 46
ILlRAP 716 10513860 A RECESSIVE 0 0307056 4 72
ILlRAP 717 6444452 T RECESSIVE 0 0167183 5 33 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
CENTB2 718 2410839 G DOMINANT 0 0200194 1 24
SLC2A9 721 13142273 T RECESSIVE 0 0300284 >5
SLC2A9 722 3733589 T RECESSIVE 0 0300284 >5
SLC2A9 723 16891926 T RECESSIVE 0 0291182 >5
SLC2A9 724 13101772 A RECESSIVE 0 0300161 >5
LDB2 726 1501132 T RECESSIVE 0 0003835 0 33
LDB2 727 6449255 A RECESSIVE 0 0174593 0 55
LDB2 728 1501141 T RECESSIVE 0 0285595 0 57
SOD3 740 12649653 A RECESSIVE 0 0401569 0 73
PI4K2B 741 7654358 G RECESSIVE 0 0424119 1 27
N4BP2 745 1625495 C RECESSIVE 00459815 0 56
LIMCHl 754 4610372 G DOMINANT 0 0063646 1 29
LIMCHl 756 4861118 A DOMINANT 0 0464618 1 20
LIMCHl 759 1105886 T DOMINANT 0 0081667 1 26
LIMCHl 760 10026359 T DOMINANT 0 0006576 1 37
LIMCHl 761 13146318 T DOMINANT 0 0093573 1 25
LIMCHl 762 10805090 C DOMINANT 0 0115515 1 24
LIMCHl 763 13113314 T DOMINANT 0 0122260 1 27
LIMCHl 764 2304651 A RECESSIVE 0 0225626 0 13
LIMCHl 765 7674006 C RECESSIVE 0 0388071 < 2
LPHN3 768 950313 C RECESSIVE 0 0124420 0 53
LPHN3 769 1124974 A RECESSIVE 0 0449070 0 62
NPFFR2 772 4574375 G ADDITIVE 0 0358307 0 66
NPFFR2 773 4379029 G ADDITIVE 0 0361672 0 66
NPFFR2 774 7657617 A ADDITIVE 0 0498153 0 68
NPFFR2 775 4276256 T ADDITIVE 0 0490012 0 68
NPFFR2 776 9884712 A ADDITIVE 0 0369620 0 66
NPFFR2 777 10938003 A ADDITIVE 0 0362230 0 66
NPFFR2 778 10033980 C ADDITIVE 0 0358307 0 66
NPFFR2 779 4472109 T ADDITIVE 0 0186600 0 62
NPFFR2 780 11733404 A ADDITIVE 0 0183936 1 15
NPFFR2 781 2137735 A DOMINANT 0 0086958 1 25
NPFFR2 782 7673208 C ADDITIVE 0 0054932 1 18
NPFFR2 783 2365797 T ADDITIVE 0 0207231 1 13
SCARB2 784 17001532 A RECESSIVE 0 0073559 2 31
SCARB2 785 17001533 C RECESSIVE 0 0073559 2 31
SCD5 790 10014168 C RECESSIVE 0 0137208 1 48
GPRIN3 791 6844815 G RECESSIVE 0 0344083 0 77
GPRIN3 794 12498405 T RECESSIVE 0 0326299 1 25
GPRIN3 795 6839114 C RECESSIVE 0 0318186 1 25
GRID2 796 1993030 T RECESSIVE 0 0084799 0 60
UNC5C 811 2220105 G RECESSIVE 0 0256000 1 40
UNC5C 814 13121737 C DOMINANT 0 0140151 0 80
UNC5C 815 13134684 T ADDITIVE 0 0299021 0 90
UNC5C 816 4103379 G DOMINANT 0 0193420 0 80
UNC5C 817 6834411 G DOMINANT 0 0202948 0 80
UNC5C 818 4519799 G RECESSIVE 0 0304882 4 73
ADHlC 820 2851255 G RECESSIVE 0 0281527 0 69
PPP3CA 826 2659524 A RECESSIVE 0 0464225 0 64
PAPSSl 827 9569 A RECESSIVE 0 0327436 0 66
PAPSSl 828 2522421 G RECESSIVE 0 0138444 0 12
PAPSSl 829 2522422 A RECESSIVE 0 0139557 0 12
PAPSSl 830 2522423 T RECESSIVE 0 0088063 0 11 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
PAPSSl 831 757170 T RECESSIVE 0 0225406 0 13
PAPSSl 832 2726198 G RECESSIVE 0 0141927 0 12
PAPSSl 833 2340454 T RECESSIVE 0 0034834 < 2
PAPSSl 834 2522431 C RECESSIVE 0 0139557 0 12
COL25A1 838 17233629 A DOMINANT 0 0208133 1 22
COL25A1 839 4256292 G DOMINANT 0 0276724 1 21
COL25A1 840 6857726 A ADDITIVE 0 0281793 1 19
ANK2 843 10488905 C DOMINANT 0 0194020 1 25
ANK2 844 11933707 G DOMINANT 0 0068063 1 27
ANK2 845 i0488904 A DOMINANT 0 0098931 1 26
ANK2 847 29355 G RECESSIVE 0 0087407 0 32
ANK2 848 29319 A RECESSIVE 0 0059700 0 30
CAMK2D 850 13144613 G RECESSIVE 0 0478159 1 30
MAML3 856 1350036 T DOMINANT 0 0438195 1 22
MAML3 857 2604918 A DOMINANT 0 0139465 0 81
MAML3 858 7698089 T RECESSIVE 0 0079339 1 32
MAML3 859 7656823 A RECESSIVE 0 0089806 1 31
MAML3 860 9996478 G RECESSIVE 0 0093113 1 31
MAML3 861 4863720 C RECESSIVE 0 0079848 1 32
MAML3 863 6858531 T RECESSIVE 0 0498930 2 55
MAML3 864 11947536 C RECESSIVE 0 0078938 >5
INPP4B 866 336407 G ADDITIVE 0 0099862 1 17
INPP4B 867 336402 T DOMINANT 0 0127092 1 25
INPP4B 868 336406 A DOMINANT 0 0083762 1 27
INPP4B 869 336394 G DOMINANT 0 0047041 1 29
INPP4B 870 2636637 T DOMINANT 0 0115457 1 26
INPP4B 871 1219269 T DOMINANT 0 0328045 1 22
INPP4B 872 2636656 G DOMINANT 0 0493955 1 20
INPP4B 873 3102439 G DOMINANT 0 0224570 1 24
INPP4B 874 1907119 G DOMINANT 0 0186256 1 25
INPP4B 875 2172023 T DOMINANT 0 0200937 1 24
INPP4B 876 2636652 C ADDITIVE 0 0109982 1 26
DCLK2 892 11727182 G DOMINANT 0 0322952 0 82
CTSO 894 6832480 T DOMINANT 0 0237369 1 22
CTSO 895 6536124 T DOMINANT 0 0234800 1 22
CTSO 896 10024900 A ADDITIVE 0 0325296 1 14
FSTL5 904 7375994 A RECESSIVE 0 0315844 1 69
TLLl 910 12646597 T RECESSIVE 0 0483031 0 79
TLLl 911 10018177 T RECESSIVE 0 0412312 0 75
PALLD 913 i 0440507 T DOMINANT 0 0486089 0 84
PALLD 914 6552874 A RECESSIVE 0 0462259 1 35
PALLD 915 10019193 G RECESSIVE 0 0304723 1 38
PALLD 917 2710841 T DOMINANT 0 0321971 0 83
PALLD 918 4280700 T DOMINANT 0 0338394 0 81
PALLD 919 12511925 T DOMINANT 0 0274824 0 81
PALLD 920 13122019 A RECESSIVE 0 0407708 1 24
PALLD 921 1039386 G DOMINANT 0 0385672 0 83
GPM6A 928 2877886 C DOMINANT 0 0050323 0 78
GPM6A 929 1021226 C ADDITIVE 0 0380585 0 92
ENPP6 934 9968325 A ADDITIVE 0 0406970 1 16
CASP3 935 12108497 T DOMINANT 0 0111860 1 24
SLC6A3 936 27061 A ADDITIVE 0 0167413 0 87
SLC6A3 937 250682 G DOMINANT 0 0065105 0 78 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
SLC6A3 938 250681 A DOMINANT 0 0470083 0 83
SLC6A3 939 393795 A DOMINANT 0 0025052 0 76
SLC6A3 940 2937639 A RECESSIVE 0 0240082 0 76
SEMA5A 941 1806095 T ADDITIVE 0 0352291 1 23
SEMA5A 942 268529 G ADDITIVE 0 0374797 1 11
SEMA5A 945 150631 A ADDITIVE 0 0360142 0 87
CTNND2 946 1024497 A ADDITIVE 0 0281941 0 87
CTNND2 947 13358276 T ADDITIVE 0 0019458 1 19
CTNND2 948 32267 T DOMINANT 0 0124904 0 79
CTNND2 949 32264 T DOMINANT 0 0121132 0 79
CTNND2 952 31888 A ADDITIVE 00362142 0 84
CTNND2 953 31892 T ADDITIVE 0 0472033 0 87
CTNND2 954 1458482 T DOMINANT 0 0011190 1 35
CTNND2 955 1458483 T ADDITIVE 0 0014734 0 81
CTNND2 956 6884647 T DOMINANT 0 0010565 1 35
CTNND2 957 1542428 T DOMINANT 0 0004697 1 38
CTNND2 958 1379901 T DOMINANT 0 0007729 1 36
DNAH5 960 13154455 G RECESSIVE 0 0417889 1 27
DNAH5 961 13178616 C RECESSIVE 0 0248029 1 32
BASPl 964 2929726 A ADDITIVE 0 0022115 1 16
BASPl 965 2956564 G ADDITIVE 0 0025794 1 13
BASPl 966 2929710 C ADDITIVE 0 0023921 1 13
CDHlO 968 10056470 C RECESSIVE 0 0411944 0 50
SLC1A3 974 2731877 C DOMINANT 0 0461012 0 82
SLC1A3 975 4869680 G DOMINANT 0 0351844 0 83
EGFLAM 976 6873748 C RECESSIVE 0 0284958 0 34
EGFLAM 977 2589804 G RECESSIVE 0 0058548 0 32
EGFLAM 978 2561111 T RECESSIVE 0 0497412 0 43
ITGAl 979 2548494 T ADDITIVE 0 0368558 1 19
ITGAl 980 13189973 T ADDITIVE 0 0394305 1 19
ITGAl 983 10513000 G ADDITIVE 0 0138472 0 89
ITGAl 986 1047481 G DOMINANT 0 0313913 1 22
ITGA2 988 989073 A ADDITIVE 0 0375827 1 12
ITGA2 989 1421937 C ADDITIVE 0 0317117 1 12
ITGA2 994 12521915 G RECESSIVE 0 0343584 1 32
PDE4D 997 12654005 G DOMINANT 0 0381491 0 83
PDE4D 998 929820 T DOMINANT 0 0479056 0 84
PDE4D 999 9292195 T ADDITIVE 0 0404465 1 15
PDE4D 1000 35258 T RECESSIVE 0 0398711 0 77
PDE4D 1001 294492 T RECESSIVE 0 0080393 2 48
PDE4D 1002 295954 G RECESSIVE 0 0337408 1 99
PDE4D 1003 295956 T RECESSIVE 0 0222173 2 12
PDE4D 1004 17380508 C RECESSIVE 0 0499867 0 43
ELO VL7 1007 6449503 A DOMINANT 0 0493368 0 83
ELO VL7 1008 4482855 T DOMINANT 0 0210430 0 80
ELO VL7 1009 4700394 A DOMINANT 0 0224171 0 80
ELO VL7 1010 4700397 A RECESSIVE 0 0271345 1 28
ELO VL7 1011 17332824 G RECESSIVE 0 0297118 1 27
PIK3R1 1012 706713 T RECESSIVE 0 0495010 0 66
TNPOl 1015 34673 G DOMINANT 0 0424093 0 81
TNPOl 1016 155624 T ADDITIVE 0 0188032 0 81
FCHO2 1018 7712673 T ADDITIVE 0 0260252 0 86
FCHO2 1019 716327 T ADDITIVE 0 0227187 0 85 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
FCHO2 1020 1156398 G ADDITIVE 0 0244766 0 85
FCHO2 1021 1568712 G ADDITIVE 0 0196452 0 85
FCHO2 1022 2277017 C ADDITIVE 0 0379745 0 87
FCHO2 1023 7727222 C ADDITIVE 0 0064707 0 83
PDE8B 1024 1982658 A RECESSIVE 0 0095640 0 66
PDE8B 1025 11953611 C RECESSIVE 0 0030521 1 64
PDE8B 1030 13178853 C RECESSIVE 0 0344304 1 46
PDE8B 1031 398509 G RECESSIVE 0 0406595 1 44
PDE8B 1032 335643 G RECESSIVE 0 0073142 1 63
SCAMPI 1034 10942850 G DOMINANT 0 0484655 0 82
SCAMPI 1035 1529497 T DOMINANT 00144309 079
SCAMPI 1036 11950060 T DOMINANT 0 0146335 0 79
SCAMPI 1037 11949403 A DOMINANT 0 0191555 0 79
SCAMPI 1038 3952231 G DOMINANT 0 0105949 0 78
SCAMPI 1039 9293749 A DOMINANT 0 0144309 0 79
SCAMPI 1040 10474548 G RECESSIVE 0 0114317 1 29
SCAMPI 1041 10065805 C DOMINANT 0 0169067 0 79
SCAMPI 1042 1050674 G DOMINANT 0 0087343 0 77
SCAMPI 1043 10514138 G DOMINANT 0 0097017 0 77
CMYA5 1050 12514461 G DOMINANT 0 0467297 1 24
MEF2C 1052 454214 G ADDITIVE 0 0081904 1 14
MEF2C 1053 618298 T ADDITIVE 0 0161067 1 14
MEF2C 1054 625970 A ADDITIVE 0 0147143 1 14
MEF2C 1055 681446 A ADDITIVE 0 0103384 1 15
MEF2C 1056 679232 G ADDITIVE 0 0126294 1 15
MEF2C 1057 304153 T DOMINANT 0 0022371 1 30
MEF2C 1058 304152 C DOMINANT 0 0026481 1 30
MEF2C 1059 304151 C DOMINANT 0 0085504 1 25
MEF2C 1060 304159 T DOMINANT 0 0021511 1 30
GPR98 1063 7716829 A DOMINANT 0 0390854 0 83
GPR98 1067 1876635 C RECESSIVE 0 0053294 0 21
GPR98 1069 1852731 C ADDITIVE 0 0462196 0 86
PJA2 1086 2963046 T RECESSIVE 0 0407637 1 29
PJA2 1087 2914705 A RECESSIVE 0 0380956 1 30
PJA2 1089 2963029 C RECESSIVE 0 0083230 1 44
PJA2 1090 2963031 A RECESSIVE 0 0215023 1 48
PJA2 1091 2963034 A RECESSIVE 0 0155698 1 40
PJA2 1092 2963013 C RECESSIVE 0 0065274 1 58
KCNN2 1094 1841248 G RECESSIVE 0 0051033 0 43
KCNN2 1095 6889371 G RECESSIVE 0 0101849 0 45
SEMA6A 1096 154599 G RECESSIVE 0 0337687 0 61
SEMA6A 1097 154600 C RECESSIVE 0 0488880 0 64
VDACl 1110 2066944 T RECESSIVE 0 0139245 0 51
GRIAl 1133 1037892 T RECESSIVE 0 0339369 0 68
ODZ2 1134 5024074 G DOMINANT 0 0015007 1 42
ODZ2 1137 1549152 C DOMINANT 0 0358324 0 81
ODZ2 1138 9284975 T DOMINANT 0 0430784 0 76
ODZ2 1140 11952245 G DOMINANT 0 0310791 0 83
ODZ2 1141 11959012 T DOMINANT 0 0200308 1 25
ODZ2 1143 10447203 A ADDITIVE 0 0114402 0 87
ODZ2 1144 11748886 G ADDITIVE 0 0306799 0 79
WWCl 1146 9686714 C RECESSIVE 0 0138956 0 12
WWCl 1147 2085449 A ADDITIVE 0 0147636 0 86 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
WWCl 1150 888773 A ADDITIVE 0 0147299 0 82
KCNIPl 1154 4867625 A RECESSIVE 0 0084345 1 79
STKlO 1157 2172048 C RECESSIVE 0 0266094 1 27
EXOC2 1162 9405242 A DOMINANT 0 0286682 0 82
EXOC2 1164 1766835 C RECESSIVE 0 0130641 1 55
EXOC2 1165 4960092 G RECESSIVE 0 0171303 1 65
EXOC2 1167 1747586 A RECESSIVE 0 0472588 1 53
EXOC2 1168 9328331 G RECESSIVE 0 0476395 1 44
JARID2 1174 2237156 T ADDITIVE 0 0054397 1 24
JARID2 1175 4109434 T ADDITIVE 0 0061261 0 88
JARID2 1176 9383054 G ADDITIVE 00043356 1 25
JARID2 1177 2237152 G DOMINANT 0 0007130 1 36
JARID2 1178 2237150 G DOMINANT 0 0038437 1 30
JARID2 1179 4085876 T ADDITIVE 0 0016878 1 20
JARID2 1180 2282827 C ADDITIVE 0 0033568 1 17
JARID2 1181 9476827 T ADDITIVE 0 0010437 1 20
JARID2 1182 2237124 C ADDITIVE 0 0006731 1 22
ATXNl 1183 235146 C RECESSIVE 0 0194869 0 78
ATXNl 1184 235147 A DOMINANT 0 0015523 1 35
ATXNl 1185 2237175 C DOMINANT 0 0033516 0 70
SLCl 7 A4 1198 9358890 G DOMINANT 0 0070529 0 66
BTN3A1 1214 3799378 G RECESSIVE 0 0343668 1 51
MSH5 1217 2299851 A ADDITIVE 0 0063621 1 35
MSH5 1218 707937 C RECESSIVE 0 0160747 1 82
KLC4 1221 9471999 C RECESSIVE 0 0279392 0 34
TJAPl 1223 7755135 T DOMINANT 0 0170193 1 30
XPO5 1224 7769795 A ADDITIVE 0 0440420 1 25
XPO5 1225 7748977 C ADDITIVE 0 0377733 1 26
XPO5 1226 1096699 A RECESSIVE 0 0342656 0 73
XPO5 1227 699937 T RECESSIVE 0 0267710 0 72
TMEM63B 1228 1935611 A DOMINANT 0 0021920 0 74
ELO VL5 1229 10948744 G DOMINANT 0 0049312 1 28
ELO VL5 1230 209485 A RECESSIVE 0 0440659 0 81
ELO VL5 1231 1579454 G ADDITIVE 0 0157892 0 82
ELO VL5 1232 9474507 A ADDITIVE 0 0170088 0 82
ELO VL5 1233 9296711 G ADDITIVE 0 0061497 0 83
RIMSl 1234 9360527 T DOMINANT 0 0207283 1 24
RIMSl 1235 2349095 T ADDITIVE 0 0427535 1 17
HTRlB 1236 6296 C ADDITIVE 0 0424589 0 90
GABRR2 1238 9294426 A ADDITIVE 0 0405476 0 92
GABRR2 1239 9344920 T ADDITIVE 0 0183365 0 86
TRDN 1244 7773653 T DOMINANT 0 0076876 1 31
TRDN 1245 1431284 G RECESSIVE 0 0445839 0 77
TRDN 1246 17737857 C RECESSIVE 0 0128481 0 78
TRDN 1249 6905508 T DOMINANT 0 0214175 1 22
TRDN 1250 1570187 C DOMINANT 0 0299527 1 21
TRDN 1251 1570186 T DOMINANT 0 0370378 1 20
TRDN 1252 1853158 G DOMINANT 0 0219061 1 22
TRDN 1253 6915835 C DOMINANT 0 0313070 1 21
TRDN 1254 9398739 T DOMINANT 0 0077908 1 26
TRDN 1255 7453704 C DOMINANT 0 0440035 1 19
TRDN 1256 1853157 A DOMINANT 0 0169131 1 23
TRDN 1257 9285452 G DOMINANT 0 0091034 1 26 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
TRDN 1258 1459767 C DOMINANT 0 0127535 1 25
NKAIN2 1259 342660 A DOMINANT 0 0416553 0 70
NKAIN2 1260 342641 T DOMINANT 0 0464314 0 72
EYA4 1264 7454561 G RECESSIVE 0 0330682 0 80
PDE7B 1266 7761961 T DOMINANT 0 0279036 1 22
PDE7B 1267 6916194 T ADDITIVE 0 0427785 1 12
PDE7B 1268 4074263 T ADDITIVE 0 0300311 1 42
UTRN 1275 9373430 A RECESSIVE 0 0306231 1 32
SYNEl 1276 2763031 T DOMINANT 0 0248949 0 82
SYNEl 1277 2635470 C DOMINANT 0 0242862 0 82
SYNEl 1278 2635469 A DOMINANT 00378937 0 83
SYNEl 1279 1324452 T DOMINANT 0 0422846 0 84
SYNEl 1280 2763015 A RECESSIVE 0 0149143 1 29
SLC22A3 1281 372665 C RECESSIVE 0 0062916 0 68
SLC22A3 1282 377551 A RECESSIVE 0 0114600 0 67
PDElOA 1293 6906719 A ADDITIVE 0 0136527 0 82
PDElOA 1294 481701 C RECESSIVE 0 0167779 0 39
SDKl 1295 651245 A RECESSIVE 0 0329166 1 29
SDKl 1296 4723420 A DOMINANT 0 0357213 0 82
SDKl 1297 12701426 A RECESSIVE 0 0399629 1 26
NXPHl 1305 3779355 A RECESSIVE 0 0233636 1 38
ETVl 1306 118020 G DOMINANT 0 0403479 1 20
DGKB 1309 6461071 C DOMINANT 0 0136856 1 24
DGKB 1310 6461072 A DOMINANT 0 0097236 1 25
DGKB 1312 2049447 C ADDITIVE 0 0165858 0 83
DGKB 1313 6967001 C RECESSIVE 0 0344874 1 70
TSPAN 13 1317 706057 T RECESSIVE 0 0356695 1 27
SNX13 1318 4543441 A ADDITIVE 0 0474867 0 88
SNX13 1319 4544985 C ADDITIVE 0 0438740 0 88
STK31 1321 10950956 T DOMINANT 0 0196026 1 24
STK31 1322 6955786 G DOMINANT 0 0136536 1 24
STK31 1323 13244337 G DOMINANT 0 0122712 1 25
STK31 1324 2158055 C RECESSIVE 0 0227590 1 75
STK31 1325 12667136 T RECESSIVE 0 0297902 1 71
SKAP2 1327 550141 C DOMINANT 0 0302471 1 21
SKAP2 1328 17315929 T RECESSIVE 0 0449551 0 68
SKAP2 1329 1391805 G DOMINANT 0 0115043 1 25
CREB 5 1330 2237361 C ADDITIVE 0 0024760 0 85
CREB 5 1331 2237364 G ADDITIVE 0 0136271 0 83
PLEKHA8 1332 10951257 G DOMINANT 0 0262302 0 81
PLEKHA8 1333 11975645 C DOMINANT 0 0281621 0 81
CRHR2 1334 973002 G ADDITIVE 0 0383946 0 83
BMPER 1344 6968741 G RECESSIVE 0 0266098 0 21
EEPDl 1346 2098368 C ADDITIVE 0 0336799 0 85
VPS41 1347 11765454 G ADDITIVE 0 0058268 1 20
VPS41 1348 6462862 A DOMINANT 0 0358235 0 83
VPS41 1349 2240355 A ADDITIVE 0 0391994 0 85
VPS41 1350 10262154 T ADDITIVE 0 0046053 1 19
VPS41 1351 3801145 C DOMINANT 0 0214666 0 82
VPS41 1352 3779127 G ADDITIVE 0 0029837 1 19
VPS41 1353 10279367 A ADDITIVE 0 0055477 1 23
VPS41 1354 6961672 C DOMINANT 0 0320528 0 83
VPS41 1355 2286080 C ADDITIVE 0 0030299 1 20 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
VPS41 1356 4723789 T ADDITIVE 0 0043633 1 22
VPS41 1357 6462865 G ADDITIVE 0 0122099 1 17
VPS41 1358 6957565 C ADDITIVE 0 0072009 1 15
VPS41 1359 17618395 G ADDITIVE 0 0110340 1 20
VPS41 1360 4723793 G DOMINANT 0 0067641 0 79
VPS41 1361 17680408 A ADDITIVE 0 0042231 1 23
VPS41 1362 6462868 G ADDITIVE 0 0034174 1 20
VPS41 1363 6946636 C ADDITIVE 0 0066739 1 22
VPS41 1364 10085898 C ADDITIVE 0 0034282 1 21
VPS41 1365 7798033 C ADDITIVE 0 0239792 1 17
VPS41 1366 10951578 C ADDITIVE 0 0151908 1 19
VPS41 1367 10255290 A RECESSIVE 0 0472003 1 37
VPS41 1368 10255854 T RECESSIVE 0 0391532 1 39
VPS41 1369 859522 G RECESSIVE 0 0264937 0 21
IGFBP3 1370 1553009 A ADDITIVE 0 0479207 0 87
IGFBP3 1371 10282088 A ADDITIVE 0 0296121 0 84
IGFBP3 1372 10499637 A ADDITIVE 0 0337505 0 86
GRBlO 1399 6976501 G DOMINANT 0 0031246 1 31
GRBlO 1400 2329489 C DOMINANT 0 0231994 1 22
GRBlO 1401 13311390 G DOMINANT 0 0138341 1 24
GRBlO 1402 1978208 G DOMINANT 0 0175505 1 25
GRBlO 1403 10265504 A DOMINANT 0 0268050 1 21
GRBlO 1404 6968827 A DOMINANT 0 0097772 1 26
GRBlO 1405 12536500 T DOMINANT 0 0293983 1 21
GRBlO 1406 17134002 A DOMINANT 0 0191867 1 23
GRBlO 1407 1019000 T DOMINANT 0 0063420 1 27
GRBlO 1408 757774 G DOMINANT 0 0132302 1 25
GRBlO 1409 6593164 C DOMINANT 0 0288063 1 21
GRBlO 1410 10281065 A DOMINANT 0 0243187 1 22
GRBlO 1411 6593174 T DOMINANT 0 0259624 1 22
GRBlO 1412 2876846 C DOMINANT 0 0279213 1 21
GRBlO 1413 11238326 G DOMINANT 0 0280415 1 21
GRBlO 1414 6963498 C DOMINANT 0 0287868 1 21
GRBlO 1415 6593182 G DOMINANT 0 0179188 1 25
GRBlO 1416 6943901 G DOMINANT 0 0324424 1 21
GRBlO 1417 6971834 T DOMINANT 0 0324424 1 21
WBSCR17 1419 6979579 C DOMINANT 0 0463092 0 82
WBSCR17 1420 648415 T ADDITIVE 0 0281075 0 88
WBSCR17 1421 995497 T ADDITIVE 0 0158683 0 83
CALNl 1422 3801156 T DOMINANT 0 0082123 1 31
CALNl 1423 749585 T DOMINANT 0 0102443 1 29
CALNl 1424 12673109 T RECESSIVE 0 0041836 0 47
CALNl 1425 6963114 A RECESSIVE 0 0087261 0 50
CALNl 1426 10254309 C RECESSIVE 0 0084468 0 50
CALNl 1427 10950297 C RECESSIVE 0 0053872 0 48
CALNl 1428 12666578 A RECESSIVE 0 0090005 0 47
CALNl 1429 10260183 C RECESSIVE 0 0022818 0 37
CALNl 1430 10260420 C RECESSIVE 0 0011975 0 34
CALNl 1435 9638655 A DOMINANT 0 0318496 1 22
CALNl 1436 6946380 A RECESSIVE 0 0477544 0 76
MAGI2 1441 38107 A RECESSIVE 0 0360157 1 38
MAGI2 1442 38111 G RECESSIVE 0 0141213 1 38
MAGI2 1448 860246 A DOMINANT 0 0235468 0 82 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
CACNA2D1 1449 37068 C RECESSIVE 0 0314903 0 76
CACNA2D1 1450 37076 G RECESSIVE 0 0487669 0 77
PCLO 1451 2107828 A ADDITIVE 0 0074065 1 18
PCLO 1452 10954694 C RECESSIVE 0 0350386 0 76
PCLO 1453 7781142 A ADDITIVE 0 0138359 1 14
PCLO 1454 7799260 C ADDITIVE 0 0119021 1 15
PCLO 1455 1034780 C ADDITIVE 0 0174271 1 17
PCLO 1456 7778238 C ADDITIVE 0 0068488 0 82
PCLO 1457 12707567 G RECESSIVE 0 0459516 1 30
PCLO 1458 10240976 A RECESSIVE 0 0314341 1 27
PPP1R9A 1466 17305991 T RECESSIVE 00233510 078
PPP1R9A 1467 7806304 C ADDITIVE 0 0480923 0 89
PPP1R9A 1468 854520 T DOMINANT 0 0495215 1 21
PPP1R9A 1469 854521 C ADDITIVE 0 0398185 0 85
PPP1R9A 1470 854531 T DOMINANT 0 0403329 1 20
PPP1R9A 1471 854532 T DOMINANT 0 0441487 1 19
PPP1R9A 1472 854534 A DOMINANT 0 0149600 1 25
PPP1R9A 1473 854535 C DOMINANT 0 0182574 1 24
PPP1R9A 1474 854537 A ADDITIVE 0 0156679 0 85
DYNClIl 1476 4729206 G ADDITIVE 0 0045583 1 37
DYNClIl 1477 2171555 A ADDITIVE 0 0145986 1 19
DYNClIl 1478 13238456 C ADDITIVE 0 0210332 1 19
ZNF3 1480 6465760 A DOMINANT 0 0475339 1 19
ZNF3 1481 4424195 G DOMINANT 0 0200763 1 22
EMID2 1482 4727494 G DOMINANT 0 0023064 0 77
EMID2 1483 869127 T ADDITIVE 0 0455470 0 78
CUXl 1486 2694166 A RECESSIVE 0 0007876 1 97
NRCAM 1496 10262724 A RECESSIVE 0 0467176 1 33
KCND2 1497 10276880 G ADDITIVE 0 0262938 1 47
CADPS2 1503 916982 G RECESSIVE 0 0416549 0 71
CADPS2 1504 2501439 C ADDITIVE 0 0425517 1 13
GRM8 1512 712723 C DOMINANT 0 0250489 1 23
GRM8 1513 10228052 T DOMINANT 0 0385174 1 22
GRM8 1514 11978873 T ADDITIVE 0 0455030 0 88
GRM8 1515 17680718 C DOMINANT 0 0197320 1 23
GRM8 1516 766239 G DOMINANT 0 0197320 1 23
GRM8 1517 2299449 A DOMINANT 0 0210484 1 23
GRM8 1518 2237735 A DOMINANT 0 0210484 1 23
GRM8 1519 2283065 C DOMINANT 0 0163372 1 24
GRM8 1520 2283066 C DOMINANT 0 0201634 1 23
GRM8 1521 12154335 T DOMINANT 0 0426821 1 20
GRM8 1522 2023640 T ADDITIVE 0 0058360 1 18
GRM8 1523 2299523 A ADDITIVE 0 0075430 0 81
GRM8 1524 1018854 G ADDITIVE 0 0051250 0 82
GRM8 1525 2188187 C ADDITIVE 0 0098052 1 17
GRM8 1526 1156652 G ADDITIVE 0 0017295 1 16
GRM8 1527 1156654 A ADDITIVE 0 0022243 1 17
GRM8 1528 11563730 T ADDITIVE 0 0074010 1 20
GRM8 1529 1419442 T ADDITIVE 0 0014619 1 28
DGKI 1532 4732255 T RECESSIVE 0 0281503 1 31
DGKI 1533 12535157 A RECESSIVE 0 0441275 1 30
DGKI 1534 4728415 G RECESSIVE 0 0429775 1 28
DGKI 1535 2113578 T ADDITIVE 0 0293521 1 10 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
DGKI 1536 12707359 T RECESSIVE 0 0042222 1 33
DGKI 1537 7793852 G RECESSIVE 0 0034265 1 34
CREB3L2 1541 1020961 T DOMINANT 0 0396712 1 20
CREB3L2 1542 9757 G DOMINANT 0 0238794 1 22
CREB3L2 1544 11972734 A DOMINANT 0 0391734 1 20
TBXASl 1546 2269997 T DOMINANT 0 0398368 1 20
CNTNAP2 1547 6969607 C ADDITIVE 0 0266035 0 88
CNTN AP2 1548 12703906 T ADDITIVE 0 0343689 0 91
CNTNAP2 1549 7803992 A ADDITIVE 0 0366156 1 19
CNTNAP2 1550 1542566 G ADDITIVE 0 0084223 1 16
CNTNAP2 1551 826811 C ADDITIVE 00016559 1 19
CNTNAP2 1552 700309 A ADDITIVE 0 0042302 1 16
CNTN AP2 1553 1525218 T ADDITIVE 0 0071294 1 16
CNTNAP2 1554 11972784 C ADDITIVE 0 0034040 1 17
CNTNAP2 1555 4726861 A ADDITIVE 0 0061281 1 19
CNTNAP2 1556 10242076 A ADDITIVE 0 0416655 1 11
CNTNAP2 1557 2022225 A ADDITIVE 0 0059064 1 17
CNTNAP2 1558 10276608 G ADDITIVE 0 0043470 1 17
CNTNAP2 1559 12703913 C ADDITIVE 0 0041744 1 16
CNTNAP2 1560 7789396 A ADDITIVE 0 0042509 1 16
CNTNAP2 1561 2373133 G ADDITIVE 0 0037206 1 16
CNTNAP2 1562 6947428 C ADDITIVE 0 0032470 1 17
CNTNAP2 1563 10270551 G ADDITIVE 0 0041744 1 16
CNTN AP2 1564 10260458 T RECESSIVE 0 0067884 1 58
CNTNAP2 1565 3915305 C ADDITIVE 0 0034758 1 17
CNTN AP2 1566 4725731 T ADDITIVE 0 0033189 1 16
CNTNAP2 1567 10952682 G ADDITIVE 0 0082219 1 14
CNTNAP2 1568 10952685 A ADDITIVE 0 0041685 1 15
CNTNAP2 1569 4726875 A DOMINANT 0 0054919 1 28
CNTNAP2 1570 1528507 C DOMINANT 0 0038729 1 30
CNTN AP2 1571 2888516 C RECESSIVE 0 0495788 0 69
CNTNAP2 1572 851653 A ADDITIVE 0 0498081 0 91
CNTNAP2 1573 10251347 G DOMINANT 0 0085100 1 55
ACCN3 1574 891507 T ADDITIVE 0 0414271 0 83
DPP6 1575 916513 G RECESSIVE 0 0249396 3 08
DPP6 1576 880730 A RECESSIVE 0 0352403 0 72
DPP6 1577 729269 T ADDITIVE 0 0367995 1 16
HTR5A 1578 1657276 C RECESSIVE 0 0487329 0 77
HTR5A 1579 1657283 G RECESSIVE 0 0101954 0 68
PTPRN2 1580 221295 A RECESSIVE 0 0227256 0 79
PTPRN2 1581 221300 C RECESSIVE 0 0369780 0 81
PTPRN2 1582 221303 A RECESSIVE 0 0030937 0 74
PTPRN2 1583 4716881 A RECESSIVE 0 0324292 0 74
PTPRN2 1584 13307400 C RECESSIVE 0 0185490 0 71
CSMDl 1586 341724 C ADDITIVE 0 0081167 1 22
CSMDl 1587 688894 G DOMINANT 0 0296692 1 22
CSMDl 1588 11136609 T DOMINANT 0 0212984 1 24
CSMDl 1589 1348267 C DOMINANT 0 0070134 0 79
CSMDl 1590 10092265 G DOMINANT 0 0056497 0 79
CSMDl 1591 7819225 C ADDITIVE 0 0237828 0 85
CSMDl 1592 270054 A DOMINANT 0 0250442 0 82
CSMDl 1593 12543159 T ADDITIVE 0 0102090 0 82
CSMDl 1594 9969557 T ADDITIVE 0 0306538 0 88 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
CSMDl 1595 7005990 G ADDITIVE 0 0073525 0 82
CSMDl 1596 7014229 T ADDITIVE 0 0165635 0 82
MCPHl 1598 2442633 G DOMINANT 0 0243083 0 81
MCPHl 1599 3020213 T DOMINANT 0 0171547 0 81
MCPHl 1600 2515435 C DOMINANT 0 0397371 0 83
MCPHl 1602 1375668 G RECESSIVE 0 0154748 1 42
MCPHl 1603 4455855 A RECESSIVE 0 0308755 1 37
MCPHl 1604 17624022 C ADDITIVE 0 0022198 0 77
MCPHl 1605 3739391 A DOMINANT 0 0102519 0 78
MCPHl 1606 3739392 G ADDITIVE 0 0135040 0 80
MCPHl 1607 2515514 A DOMINANT 00308876 0 81
MCPHl 1608 2912084 C ADDITIVE 0 0313028 0 88
ANGPT2 1609 7825811 T RECESSIVE 0 0427316 0 29
SGCZ 1611 10092634 C RECESSIVE 0 0394393 1 26
SGCZ 1612 2054356 G RECESSIVE 0 0179649 1 34
SGCZ 1613 1551816 C RECESSIVE 0 0224905 1 32
SGCZ 1614 1510445 C RECESSIVE 0 0247559 0 63
SGCZ 1615 11989868 C RECESSIVE 0 0363739 0 67
SGCZ 1616 11990657 A RECESSIVE 0 0313972 0 66
SGCZ 1617 11998116 G RECESSIVE 0 0231300 0 65
SGCZ 1618 7822045 A RECESSIVE 0 0250617 0 67
SLC7A2 1620 2588164 A ADDITIVE 0 0366482 0 88
ATP6V1B2 1627 13253777 G ADDITIVE 0 0206804 1 15
XPO7 1628 11135789 C DOMINANT 0 0275765 0 83
PPP3CC 1629 7827093 C RECESSIVE 0 0426589 0 80
PPP3CC 1630 11778831 T RECESSIVE 0 0414312 0 80
PPP3CC 1631 2469757 T RECESSIVE 0 0442273 0 80
PPP3CC 1632 2461491 C RECESSIVE 0 0326578 0 79
PPP3CC 1633 2469760 G RECESSIVE 0 0401341 0 80
PPP3CC 1634 2461481 A RECESSIVE 0 0268717 0 78
PPP3CC 1635 1116084 A RECESSIVE 0 0232025 0 78
PPP3CC 1636 1482337 T RECESSIVE 0 0474068 0 80
SLC25A37 1638 7826247 G RECESSIVE 0 0133535 1 52
UNC5D 1642 7841785 A RECESSIVE 0 0121948 0 35
UNC5D 1643 6989128 A RECESSIVE 0 0233071 0 40
UNC5D 1644 983270 A RECESSIVE 0 0088917 0 34
UNC5D 1645 983273 G RECESSIVE 0 0233071 0 40
UNC5D 1646 4739416 G RECESSIVE 0 0027065 0 25
UNC5D 1647 10954992 C ADDITIVE 0 0318533 0 88
SNTGl 1656 2450290 G RECESSIVE 0 0077811 >5
SNTGl 1657 318861 G RECESSIVE 0 0078474 >5
SNTGl 1659 10504093 G RECESSIVE 0 0300981 >5
SNTGl 1661 1344326 G RECESSIVE 0 0154496 >5
SNTGl 1662 11783503 G RECESSIVE 0 0300981 >5
SNTGl 1664 11783631 T RECESSIVE 0 0300284 >5
SNTGl 1667 203632 T DOMINANT 0 0386653 0 83
SNTGl 1671 6997739 C RECESSIVE 0 0053340 0 50
SNTGl 1672 4440649 C DOMINANT 0 0359079 0 78
LYN 1674 907424 A RECESSIVE 0 0428401 1 24
LYN 1675 1877301 T RECESSIVE 0 0371189 1 25
LYN 1676 868541 A RECESSIVE 0 0395984 1 24
LYN 1677 1027986 C RECESSIVE 0 0368128 1 25
LYN 1678 10282821 A ADDITIVE 0 0229134 1 15 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
NKAIN3 1682 17243191 T RECESSIVE 0 0158950 1 51
NKAIN3 1683 1376759 A ADDITIVE 0 0334432 1 09
NKAIN3 1685 10458307 T ADDITIVE 0 0298413 1 17
DEPDC2 1690 1434764 A RECESSIVE 0 0383367 1 29
DEPDC2 1691 1014663 C RECESSIVE 0 0378064 1 30
KCNB2 1692 13251896 G DOMINANT 0 0148115 1 25
KCNB2 1693 2256431 A DOMINANT 0 0208368 1 22
KCNB2 1694 1972888 C DOMINANT 0 0192951 1 22
KCNB2 1695 2256012 C DOMINANT 0 0409104 1 20
KCNB2 1696 2196904 C DOMINANT 0 0019747 1 31
KCNB2 1697 1899077 T DOMINANT 0 0426818 1 19
KCNB2 1698 1866740 A DOMINANT 0 0199283 1 22
KCNB2 1699 1440355 C DOMINANT 0 0390306 1 19
KCNB2 1700 2247121 A DOMINANT 0 0175706 1 23
KCNB2 1701 2243607 G DOMINANT 0 0235291 1 22
KCNB2 1702 1965805 G DOMINANT 0 0374924 1 20
KCNB2 1703 2919408 G DOMINANT 0 0052564 1 28
KCNB2 1704 4571768 G ADDITIVE 0 0087585 1 21
KCNB2 1705 4307385 C ADDITIVE 0 0262631 1 17
KCNB2 1706 4307386 C ADDITIVE 0 0223659 1 13
KCNB2 1707 10096802 A RECESSIVE 0 0400735 1 24
KCNB2 1708 7006287 G RECESSIVE 0 0417485 1 24
MMP 16 1710 10100297 G DOMINANT 0 0093713 1 25
MMP 16 1711 4961087 C DOMINANT 0 0061100 1 27
MMP 16 1713 4548227 A DOMINANT 0 0052824 1 27
ZFPM2 1735 16873003 C RECESSIVE 0 0291068 1 55
ZFPM2 1737 7823133 T RECESSIVE 0 0399677 1 51
ZFPM2 1738 6992053 A RECESSIVE 0 0399677 1 51
ZFPM2 1739 1481026 T RECESSIVE 0 0310871 1 55
CSMD3 1742 4876279 T DOMINANT 0 0239791 1 23
CSMD3 1743 17628739 G DOMINANT 0 0403819 0 83
CSMD3 1744 17630545 C ADDITIVE 0 0198970 0 87
CSMD3 1745 10505182 A ADDITIVE 0 0162187 0 86
CSMD3 1746 1895016 G DOMINANT 0 0319117 1 22
CSMD3 1747 16883350 A DOMINANT 0 0141110 0 79
CSMD3 1748 929685 T ADDITIVE 0 0127708 1 18
CSMD3 1749 1420859 T ADDITIVE 0 0251957 1 15
CSMD3 1750 1492678 A DOMINANT 0 0040323 0 76
CSMD3 1751 3950676 A DOMINANT 0 0032317 0 76
CSMD3 1752 4876281 G RECESSIVE 0 0130176 1 27
CSMD3 1753 4876468 T DOMINANT 0 0029974 0 75
CSMD3 1754 4563913 T DOMINANT 0 0043788 0 76
CSMD3 1755 4556111 T ADDITIVE 0 0266173 1 12
CSMD3 1756 1873746 T DOMINANT 0 0040320 0 76
CSMD3 1757 6994009 A RECESSIVE 0 0080830 1 30
CSMD3 1758 9886643 C RECESSIVE 0 0071703 1 30
CSMD3 1759 12676848 A RECESSIVE 0 0090360 1 29
CSMD3 1760 9649933 A RECESSIVE 0 0112562 1 28
CSMD3 1761 1492660 A ADDITIVE 0 0325255 1 10
CSMD3 1765 1513520 G RECESSIVE 0 0237756 0 79
FBXO32 1768 4870855 A ADDITIVE 0 0396670 0 78
FERl L6 1777 6981430 G DOMINANT 0 0380371 1 21
MTSSl 1778 2013845 G ADDITIVE 0 0125099 0 87 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
MTSSl 1779 9771920 T RECESSIVE 0 0433217 0 52
MTSSl 1780 919544 A ADDITIVE 0 0082588 0 82
MTSSl 1781 3901290 C RECESSIVE 0 0032857 2 47
DDEFl 1785 2670886 C RECESSIVE 0 0066020 0 35
ADCY8 1786 6986982 A RECESSIVE 0 0136146 0 46
ADCY8 1787 11776982 C RECESSIVE 0 0225496 0 50
ADCY8 1788 7461448 A RECESSIVE 0 0219152 0 50
COL22A1 1790 7017524 A DOMINANT 0 0234086 0 79
COL22A1 1791 10875432 G RECESSIVE 0 0327652 1 45
COL22A1 1792 7818881 C ADDITIVE 0 0282287 1 13
COL22A1 1793 10090299 C ADDITIVE 00199321 1 14
COL22A1 1794 7838300 C ADDITIVE 0 0226159 1 16
COL22A1 1795 7838450 C ADDITIVE 0 0330791 1 16
COL22A1 1796 9324497 G ADDITIVE 0 0286441 1 15
COL22A1 1797 2292927 T RECESSIVE 0 0073296 1 84
COL22A1 1798 4736221 T RECESSIVE 0 0010171 2 31
COL22A1 1799 7006103 C RECESSIVE 0 0006843 2 36
COL22A1 1800 1879047 T RECESSIVE 0 0010017 2 31
KCNK9 1801 885724 C DOMINANT 0 0271704 0 82
PTP4A3 1802 7464176 T ADDITIVE 0 0235240 1 18
SMARCA2 1803 13288443 G DOMINANT 0 0257316 0 79
SMARCA2 1804 7035991 T DOMINANT 0 0367617 0 80
SMARCA2 1806 7858344 T DOMINANT 0 0118075 0 76
SMARCA2 1807 10965113 C DOMINANT 0 0238185 0 80
SMARCA2 1809 3818385 T DOMINANT 0 0158222 0 77
SLClAl 1811 7045401 G RECESSIVE 0 0038336 0 71
SLClAl 1813 4742013 C ADDITIVE 0 0463596 0 75
ADAMTSLl 1815 563805 C RECESSIVE 0 0287211 1 89
ASAH3L 1816 2383096 A DOMINANT 0 0218034 0 81
KIAAl 797 1817 10738564 G DOMINANT 0 0338537 1 22
KIAAl 797 1818 7848159 G DOMINANT 0 0283309 1 23
KIAAl 797 1820 17685673 T RECESSIVE 0 0332263 1 29
KIAAl 797 1822 16938162 C RECESSIVE 0 0191739 1 33
KIAAl 797 1823 10511687 G RECESSIVE 0 0234244 1 33
KIAAl 797 1824 7025868 G ADDITIVE 0 0234769 1 21
KIAAl 797 1825 6475483 T ADDITIVE 0 0446537 1 16
KIAAl 797 1826 2383169 C ADDITIVE 0 0326291 1 17
KIAAl 797 1827 2383170 A ADDITIVE 0 0228506 1 20
KIAAl 797 1828 10738569 A ADDITIVE 0 0316246 1 19
KIAAl 797 1829 4278230 G RECESSIVE 0 0022173 0 73
IFT74 1830 7035755 G ADDITIVE 0 0186187 0 81
IFT74 1831 7039400 A ADDITIVE 0 0346589 0 82
IFT74 1832 17756299 C DOMINANT 0 0151261 0 74
IFT74 1833 7857669 A ADDITIVE 0 0144243 0 80
IFT74 1835 17694631 C ADDITIVE 0 0118149 0 78
IFT74 1836 2095405 C ADDITIVE 0 0108959 0 80
TEK 1837 1591355 G ADDITIVE 0 0082850 0 80
TEK 1838 4601425 T RECESSIVE 0 0014039 0 66
PIP5K1B 1841 4744726 G DOMINANT 0 0314778 1 23
PIP5K1B 1842 1414949 C DOMINANT 0 0244834 1 24
PIP5K1B 1843 11144133 T RECESSIVE 0 0239211 0 79
PIP5K1B 1845 872077 A ADDITIVE 0 0012371 0 76
MAMDC2 1846 3015182 C ADDITIVE 0 0415595 1 19 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
MAMDC2 1847 3015189 G ADDITIVE 0 0366178 1 19
MAMDC2 1848 3015213 A ADDITIVE 0 0424673 1 19
MAMDC2 1849 3015223 A ADDITIVE 0 0127180 1 26
MAMDC2 1850 2182731 C ADDITIVE 0 0104016 1 20
TRPM3 1851 2275242 G ADDITIVE 0 0427214 1 11
TRPM3 1852 1415229 A ADDITIVE 0 0374724 1 12
TRPM3 1853 6560161 G ADDITIVE 0 0439742 1 17
TRPM3 1854 1337028 T ADDITIVE 0 0286367 1 18
TRPM3 1855 7022926 G ADDITIVE 0 0339566 1 18
TRPM3 1856 10868916 C ADDITIVE 0 0338369 0 85
TRPM6 1869 539079 G RECESSIVE 00210478 408
TRPM6 1870 506973 C RECESSIVE 0 0329027 3 26
TRPM6 1871 2274924 G ADDITIVE 0 0168181 1 22
TRPM6 1872 3750425 T RECESSIVE 0 0331844 3 25
TRPM6 1873 12004677 G ADDITIVE 0 0111713 1 22
NTRK2 1884 1439054 C RECESSIVE 0 0432386 0 33
NTRK2 1886 1212171 C RECESSIVE 0 0319888 0 79
NTRK2 1887 1187329 A RECESSIVE 0 0341744 0 79
NTRK2 1888 3780632 C RECESSIVE 0 0032326 0 67
NTRK2 1889 10116453 A RECESSIVE 0 0050538 0 62
NTRK2 1890 7867174 C RECESSIVE 0 0015349 0 65
NTRK2 1891 1936435 T RECESSIVE 0 0154401 0 70
NTRK2 1892 7038866 A ADDITIVE 0 0110408 0 90
NTRK2 1893 1539676 A RECESSIVE 0 0104620 0 68
NTRK2 1894 2799482 C RECESSIVE 0 0061924 0 69
NTRK2 1895 2799483 C RECESSIVE 0 0061924 0 69
NTRK2 1896 1778913 T RECESSIVE 0 0142011 1 62
NTRK2 1897 10512154 A RECESSIVE 0 0410501 1 49
NTRK2 1898 9314735 G RECESSIVE 0 0244377 1 58
DAPKl 1899 6560011 C RECESSIVE 0 0389489 0 79
DAPKl 1900 11141934 A RECESSIVE 0 0396753 < 2
DAPKl 1901 3128501 G RECESSIVE 0 0199596 1 31
SHC3 1903 9410299 C DOMINANT 0 0305083 0 81
ZNF 169 1910 3118766 C RECESSIVE 0 0379430 0 76
GABBR2 1912 1435253 T ADDITIVE 0 0416995 0 85
GABBR2 1913 970388 C DOMINANT 0 0148177 0 81
GABBR2 1914 7850445 G DOMINANT 0 0293185 0 83
GRIN3A 1915 9299345 T ADDITIVE 0 0144311 0 78
GRIN3A 1916 10819954 A RECESSIVE 0 0212699 0 65
GRIN3A 1917 10819959 C RECESSIVE 0 0157693 0 63
GRIN3A 1918 1323421 T DOMINANT 0 0302447 1 23
GRIN3A 1919 7849782 C RECESSIVE 0 0088792 0 76
GRIN3A 1920 2146801 T DOMINANT 0 0474707 1 19
GRIN3A 1921 1853447 T RECESSIVE 0 0169973 0 62
GRIN3A 1922 12708308 C RECESSIVE 0 0093364 0 60
GRIN3A 1923 4742823 A DOMINANT 0 0370507 1 22
GRIN3A 1924 2485534 A RECESSIVE 0 0107954 0 77
GRIN3A 1925 2506362 C DOMINANT 0 0267598 1 24
GRIN3A 1926 10760802 T RECESSIVE 0 0040421 0 74
GRIN3A 1927 4278209 T RECESSIVE 0 0042671 0 74
GRIN3A 1928 2786720 C DOMINANT 0 0030816 1 34
PALM2 1937 10816929 A ADDITIVE 0 0366808 1 12
SVEPl 1938 4978934 C ADDITIVE 0 0408891 0 90 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
SVEPl 1939 10817042 T RECESSIVE 0 0053090 0 65
RGS3 1944 4979253 G DOMINANT 0 0161113 0 81
RGS3 1945 12337340 C RECESSIVE 0 0194267 3 56
ZNF618 1946 10121424 T DOMINANT 0 0251012 1 21
DFNB31 1956 10817625 A RECESSIVE 0 0420573 1 24
DFNB31 1957 10982246 A RECESSIVE 0 0388448 1 23
DFNB31 1958 1535964 C RECESSIVE 0 0448325 1 27
DFNB31 1959 10817635 A DOMINANT 0 0146594 0 78
DFNB31 1960 10817636 A DOMINANT 0 0258219 0 80
PAPPA 1961 1475215 A RECESSIVE 0 0186419 1 36
ASTN2 1965 1876475 A DOMINANT 00273090 0 82
ASTN2 1966 767432 A RECESSIVE 0 0101445 1 42
ASTN2 1967 1475057 T DOMINANT 0 0052805 0 78
ASTN2 1968 1542987 C DOMINANT 0 0063019 0 78
ASTN2 1969 1885242 A DOMINANT 0 0425887 0 83
ASTN2 1970 803926 C RECESSIVE 0 0167959 1 27
ASTN2 1971 803929 A RECESSIVE 0 0167959 1 27
ASTN2 1972 2900132 G DOMINANT 0 0273053 0 83
ASTN2 1973 811689 T DOMINANT 0 0363152 0 83
ASTN2 1974 803939 G RECESSIVE 0 0132340 1 29
ASTN2 1975 10983314 T DOMINANT 0 0176569 0 81
ASTN2 1976 10759876 A RECESSIVE 0 0325558 0 60
ASTN2 1977 3849144 G RECESSIVE 0 0359050 0 61
ASTN2 1981 1928993 C ADDITIVE 0 0227890 0 91
ASTN2 1982 1928995 G RECESSIVE 0 0192020 0 78
ASTN2 1986 10739492 A ADDITIVE 0 0380223 0 87
ASTN2 1987 7032028 T RECESSIVE 0 0165675 0 77
ASTN2 1988 17419611 T DOMINANT 0 0112128 1 28
CDK5RAP2 1990 3849113 C RECESSIVE 0 0356542 0 15
CDK5RAP2 1991 10760103 G ADDITIVE 0 0329487 0 77
TTLLl 1 1997 13299260 T RECESSIVE 0 0443712 0 82
LHX6 2001 7859776 T DOMINANT 0 0298107 0 83
DENNDlA 2002 7047077 T RECESSIVE 0 0056382 0 65
DENNDlA 2003 7044960 T RECESSIVE 0 0305607 0 70
DENNDlA 2004 3829851 C RECESSIVE 0 0304882 4 73
DENNDlA 2005 17212242 C DOMINANT 0 0381496 1 23
DENNDlA 2006 10760290 T RECESSIVE 0 0073319 0 66
DENNDlA 2007 10986026 T RECESSIVE 0 0193819 0 70
DENNDlA 2008 10986064 T RECESSIVE 0 0082638 0 53
DENNDlA 2009 1346643 G RECESSIVE 0 0384185 0 70
DENNDlA 2010 12377523 A RECESSIVE 0 0380315 0 73
DENNDlA 2011 670961 A DOMINANT 0 0165799 1 28
DENNDlA 2012 623640 C DOMINANT 0 0213830 1 33
DENNDlA 2013 630991 A ADDITIVE 0 0354109 1 22
NEK6 2014 4838141 T RECESSIVE 0 0176925 0 75
NEK6 2015 4838142 T RECESSIVE 0 0173032 0 75
NEK6 2016 7020077 T RECESSIVE 0 0374866 0 39
ABLl 2018 11244112 T RECESSIVE 0 0104563 1 56
ABLl 2019 2791728 A RECESSIVE 0 0103761 1 56
ABLl 2020 2583845 A RECESSIVE 0 0101904 1 56
ABLl 2021 2855160 T ADDITIVE 0 0482647 1 11
ABLl 2022 2789764 T RECESSIVE 0 0060805 1 60
ABLl 2023 2253070 A RECESSIVE 0 0084280 1 57 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
ABLl 2024 2253084 T RECESSIVE 0 0133269 1 54
ABLl 2025 2855166 G RECESSIVE 0 0080620 1 58
ABLl 2026 10793970 C RECESSIVE 0 0095570 1 58
ABLl 2027 2260323 C RECESSIVE 0 0035922 0 39
TSCl 2028 2072058 A RECESSIVE 0 0218350 1 27
TSCl 2029 1076160 A ADDITIVE 0 0031707 1 20
TSCl 2030 2106346 C ADDITIVE 0 0038176 1 18
VAV2 2034 3780737 T ADDITIVE 0 0373574 1 21
VAV2 2035 7038256 T DOMINANT 0 0491421 1 23
VAV2 2036 7025939 C DOMINANT 0 0484149 1 23
VAV2 2037 7852459 C ADDITIVE 00374513 1 20
KCNTl 2038 497547 G RECESSIVE 0 0181664 8 29
INPP5E 2039 3812591 C RECESSIVE 0 0392248 0 67
NOTCHl 2040 3124596 G RECESSIVE 0 0381242 0 81
CACNAlB 2047 2606356 C RECESSIVE 0 0373269 0 70
PRKCQ 2050 7098118 G RECESSIVE 0 0322084 0 80
MYO3A 2066 12413819 G ADDITIVE 0 0465566 1 12
MYO3A 2067 10828913 A RECESSIVE 0 0251933 0 79
MYO3A 2068 1339814 T ADDITIVE 0 0285389 0 91
MYO3A 2069 1416860 T ADDITIVE 0 0394525 0 91
MYO3A 2070 7899567 A ADDITIVE 0 0356197 0 91
MYO3A 2071 11014934 G ADDITIVE 0 0329156 0 90
MYO3A 2072 12246202 C ADDITIVE 0 0336769 0 89
MYO3A 2073 12263990 G ADDITIVE 0 0156424 0 89
MYO3A 2074 7095559 A ADDITIVE 0 0254709 0 89
MYO3A 2075 12258453 T ADDITIVE 0 0211277 0 89
SLC 18 A3 2076 7072155 A ADDITIVE 0 0302690 0 86
SLC 18 A3 2077 3810947 A ADDITIVE 0 0020366 0 61
PRKGl 2078 6479874 T RECESSIVE 0 0168037 0 48
PRKGl 2079 1904701 A RECESSIVE 0 0439780 1 24
PRKGl 2080 1904693 C RECESSIVE 0 0044438 0 74
PRKGl 2081 1904692 T RECESSIVE 0 0050777 0 74
PRKGl 2082 7893773 T ADDITIVE 0 0160324 0 91
PRKGl 2083 1904683 A RECESSIVE 0 0365828 0 79
PRKGl 2087 10466032 A ADDITIVE 0 0215148 1 12
PRKGl 2088 7898110 C ADDITIVE 0 0140078 1 13
PCDHl 5 2089 7894926 G DOMINANT 0 0278962 0 83
PCDHl 5 2110 11004864 A RECESSIVE 0 0029424 0 61
PCDHl 5 2111 11004899 C ADDITIVE 0 0265588 0 89
PCDH 15 2112 11817318 T RECESSIVE 0 0075861 0 64
PCDHl 5 2113 16907523 G RECESSIVE 0 0055983 0 63
ANK3 2114 4948381 C RECESSIVE 0 0163307 1 42
ANK3 2117 2393614 T DOMINANT 0 0227626 1 22
ANK3 2118 11814110 A DOMINANT 0 0059685 1 28
JMJDlC 2121 10733789 C RECESSIVE 0 0036418 1 53
JMJDlC 2122 10761739 C RECESSIVE 0 0310920 1 27
JMJDlC 2123 10761741 T RECESSIVE 0 0170313 1 31
JMJDlC 2125 10740118 C RECESSIVE 0 0307258 1 27
CTNNA3 2127 4746541 G ADDITIVE 0 0377940 0 86
CTNNA3 2128 10509256 A DOMINANT 0 0105834 0 79
CTNNA3 2130 1903881 A ADDITIVE 0 0400313 0 84
CTNN A3 2131 6480141 T ADDITIVE 0 0172475 0 84
CTNNA3 2132 10996932 C ADDITIVE 0 0201696 0 84 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
CTNNA3 2133 1462817 A ADDITIVE 0 0458365 0 87
CTNNA3 2134 1471383 A ADDITIVE 0 0437793 0 88
CTNNA3 2135 2893985 C ADDITIVE 0 0403465 0 90
CTNN A3 2136 4578273 T RECESSIVE 0 0343268 0 53
CTNNA3 2138 12569810 G ADDITIVE 0 0435631 0 87
CTNNA3 2139 10997042 G ADDITIVE 0 0449482 0 87
CTNNA3 2145 6480253 A DOMINANT 0 0370978 0 82
CTNNA3 2146 1904633 A DOMINANT 0 0239466 0 82
CTNNA3 2147 2127595 A DOMINANT 0 0242748 0 82
CTNNA3 2148 7078583 T DOMINANT 0 0272915 0 82
CTNNA3 2149 1904653 T DOMINANT 00316871 0 82
CTNNA3 2150 1947842 A DOMINANT 0 0389275 0 83
CTNNA3 2151 10823003 C DOMINANT 0 0204615 0 81
CTNNA3 2152 7907339 T DOMINANT 0 0146015 0 80
CTNNA3 2153 1904645 G DOMINANT 0 0209166 0 81
CTNNA3 2156 10997759 A ADDITIVE 0 0133316 0 82
CTNNA3 2157 7076484 A ADDITIVE 0 0270663 0 85
CTNNA3 2158 4522060 G ADDITIVE 0 0127013 0 83
CTNNA3 2159 7076356 A ADDITIVE 0 0213460 0 85
CTNNA3 2160 7893446 C ADDITIVE 0 0208959 0 87
CTNNA3 2161 3125312 A DOMINANT 0 0251542 0 82
CTNNA3 2162 7072543 G ADDITIVE 0 0115815 0 83
CDH23 2163 2305210 A DOMINANT 0 0449191 1 19
KCNMAl 2164 846606 T DOMINANT 0 0476626 1 20
KCNMAl 2165 2569360 C ADDITIVE 0 0027201 1 25
KCNMAl 2166 2569361 C ADDITIVE 0 0028000 1 25
KCNMAl 2167 4980107 C ADDITIVE 0 0034214 1 28
KCNMAl 2168 10762731 G ADDITIVE 0 0050389 1 25
KCNMAl 2169 4980113 C ADDITIVE 0 0082204 1 25
KCNMAl 2170 10762732 T ADDITIVE 0 0088407 1 23
KCNMAl 2171 7086316 G RECESSIVE 0 0044008 1 98
KCNMAl 2172 10762740 G RECESSIVE 0 0047376 1 73
KCNMAl 2177 7078525 T RECESSIVE 0 0298495 2 10
KCNMAl 2178 11002054 G RECESSIVE 0 0443400 1 87
KCNMAl 2179 7071433 A ADDITIVE 0 0146885 0 83
KCNMAl 2180 7071575 C ADDITIVE 0 0088199 0 80
KCNMAl 2181 10824547 T DOMINANT 0 0046037 0 75
KCNMAl 2182 2673464 A ADDITIVE 0 0258129 1 21
NRG3 2183 11191281 G DOMINANT 0 0223381 0 82
NRG3 2187 474496 G ADDITIVE 0 0141283 0 88
NRG3 2188 495978 A RECESSIVE 0 0424455 0 76
SORBSl 2189 3193970 G ADDITIVE 0 0403484 0 87
SORBSl 2191 7904517 C DOMINANT 0 0481906 0 84
SORBSl 2192 4918918 T DOMINANT 0 0465045 0 84
SORBSl 2195 7086071 A RECESSIVE 0 0402730 0 81
PIK3AP1 2200 563654 A ADDITIVE 0 0485542 1 20
SLITl 2201 2817688 G DOMINANT 0 0477908 0 84
SLITl 2204 877825 A RECESSIVE 0 0068247 1 49
SLITl 2205 1253425 T RECESSIVE 0 0044443 1 53
SORCS3 2206 10786806 T DOMINANT 0 0230872 0 81
SORCS3 2207 10884026 G DOMINANT 0 0466766 0 83
SORCS3 2212 2451484 T DOMINANT 0 0204182 1 22
SORCS3 2213 2451492 T DOMINANT 0 0448306 1 19 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
SORCS3 2214 2451498 C DOMINANT 0 0394798 1 20
VTIlA 2218 10509963 A ADDITIVE 0 0364346 1 15
VTIlA 2219 10885352 A ADDITIVE 0 0312111 1 16
ATRNLl 2220 1264764 C RECESSIVE 0 0423769 1 44
ATRNLl 2221 2165988 A RECESSIVE 0 0263977 1 49
ATRNLl 2222 659351 C ADDITIVE 0 0425307 0 92
ATRNLl 2226 11197258 A RECESSIVE 0 0241968 1 27
ATRNLl 2227 17724227 G RECESSIVE 0 0486980 1 22
ATRNLl 2229 11197299 G RECESSIVE 0 0420227 1 23
ATRNLl 2230 2804192 A DOMINANT 0 0465215 0 83
ATRNLl 2232 2804204 T DOMINANT 00452295 0 82
ATRNLl 2233 2804207 C DOMINANT 0 0446262 0 82
ATRNLl 2234 1590734 G DOMINANT 0 0220684 0 80
ATRNLl 2235 1590733 G DOMINANT 0 0271440 0 81
ATRNLl 2236 10787584 T DOMINANT 0 0300612 0 81
ATRNLl 2237 11197337 T DOMINANT 0 0247875 0 80
ATRNLl 2238 2804249 G DOMINANT 0 0261977 0 81
ATRNLl 2239 2420098 G DOMINANT 0 0258332 0 81
ATRNLl 2240 2615886 T DOMINANT 0 0213907 0 81
GRK5 2245 12783252 A DOMINANT 0 0293098 1 26
ATEl 2246 9971131 G RECESSIVE 0 0322772 1 28
ATEl 2247 1693688 C RECESSIVE 0 0110052 1 39
ATEl 2248 1696853 T RECESSIVE 0 0190620 1 32
ATEl 2249 2935718 C RECESSIVE 0 0165139 1 33
ATEl 2250 1693687 C RECESSIVE 0 0213620 1 31
ATEl 2251 7086628 G ADDITIVE 0 0298710 1 12
ATEl 2253 753455 C ADDITIVE 0 0240211 0 81
ATEl 2254 3862129 C RECESSIVE 0 0160747 1 82
ATEl 2255 11200201 C RECESSIVE 0 0250409 1 70
ATEl 2257 7907871 A RECESSIVE 0 0077470 2 10
ATEl 2258 12245528 C RECESSIVE 0 0170905 1 78
ATEl 2259 11818001 A RECESSIVE 0 0154840 1 79
ATEl 2260 10510101 A RECESSIVE 0 0127797 1 82
ATEl 2261 12253283 A RECESSIVE 0 0121793 1 82
ATEl 2262 11200257 A RECESSIVE 0 0126460 1 82
ATEl 2263 11200260 T RECESSIVE 0 0126460 1 82
EBF3 2264 11016947 T ADDITIVE 0 0249669 0 87
DEAFl 2267 10902209 A RECESSIVE 0 0407650 1 49
CENDl 2268 11823172 A ADDITIVE 0 0447735 1 12
TRIM21 2280 2599586 G ADDITIVE 0 0496600 1 09
GALNTL4 2282 12224023 C RECESSIVE 0 0315983 0 76
GALNTL4 2283 901553 C DOMINANT 0 0400766 0 84
GALNTL4 2284 11021956 C ADDITIVE 0 0036817 1 23
GALNTL4 2285 7484121 A ADDITIVE 0 0262693 1 12
SPONl 2291 2697852 G RECESSIVE 0 0314548 1 43
SPONl 2292 1969542 C RECESSIVE 0 0068803 1 46
SPONl 2303 12283632 A RECESSIVE 0 0211452 1 43
SPONl 2304 11023067 G RECESSIVE 0 0314589 1 39
SPONl 2309 1864658 C RECESSIVE 0 0225521 1 38
SPONl 2310 4757244 A RECESSIVE 0 0161609 1 41
SPONl 2311 2303974 A RECESSIVE 0 0392525 1 34
SERGEF 2319 999420 T ADDITIVE 0 0259634 0 91
SERGEF 2320 4757589 C ADDITIVE 0 0241152 0 88 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
SERGEF 2321 2299634 C DOMINANT 0 0470294 1 20
IGSF22 2322 9705036 T RECESSIVE 0 0454089 0 73
IGSF22 2325 4537730 A DOMINANT 0 0307116 1 20
PTPN5 2326 4757710 A DOMINANT 0 0068522 1 26
PTPN5 2327 4757711 T DOMINANT 0 0101211 1 25
PTPN5 2328 11024782 T DOMINANT 0 0108359 1 24
PTPN5 2329 4757718 G RECESSIVE 0 0044080 1 45
NAV2 2331 1559665 G RECESSIVE 0 0079769 1 30
NAV2 2333 1035700 T RECESSIVE 0 0146450 1 28
NAV2 2339 12807015 T RECESSIVE 0 0466472 0 81
LRRC4C 2362 976933 G ADDITIVE 00151178 0 83
LRRC4C 2363 7925066 T ADDITIVE 0 0223300 0 84
LRRC4C 2364 1452478 G ADDITIVE 0 0137950 0 77
LRRC4C 2365 6485190 A ADDITIVE 0 0341935 0 81
LRRC4C 2366 721587 A ADDITIVE 0 0202120 0 76
LRRC4C 2367 1470817 G ADDITIVE 0 0230646 0 83
LRRC4C 2368 1452474 C ADDITIVE 0 0215748 0 84
LRRC4C 2369 1452473 C ADDITIVE 0 0292250 0 79
LRRC4C 2370 10837372 T ADDITIVE 0 0142079 0 77
LRRC4C 2371 1452466 C ADDITIVE 0 0290746 0 79
LRRC4C 2373 10501227 G ADDITIVE 0 0128450 0 77
LRRC4C 2374 1452485 A ADDITIVE 0 0172530 0 79
PHACS 2376 16937817 G ADDITIVE 0 0225850 0 83
PHACS 2379 7950395 T ADDITIVE 0 0093959 0 83
PHACS 2382 11037858 A RECESSIVE 0 0140017 1 64
SYT 13 2383 2863174 C RECESSIVE 0 0224882 2 71
SYT 13 2384 6485604 T RECESSIVE 0 0224882 2 71
SYT 13 2385 6416130 A ADDITIVE 0 0451255 1 15
SYT 13 2386 12362429 G ADDITIVE 0 0337908 1 17
SYT 13 2387 12362444 G ADDITIVE 0 0365689 1 17
SYT 13 2388 1000665 C DOMINANT 0 0097587 1 28
SYT 13 2389 7124508 T DOMINANT 0 0192891 1 24
CTNNDl 2390 576859 A RECESSIVE 0 0449124 0 73
CTNNDl 2391 2956981 A DOMINANT 0 0262929 1 23
CTNNDl 2392 11570181 C DOMINANT 0 0375459 1 21
CTNNDl 2393 606499 G DOMINANT 0 0419198 1 21
CTNNDl 2394 1786438 T DOMINANT 0 0220739 1 24
CTNNDl 2395 585337 C DOMINANT 0 0490368 1 20
CTNNDl 2396 10750870 A DOMINANT 0 0437290 1 20
DLG2 2397 1075719 G ADDITIVE 0 0463368 0 90
DLG2 2398 10501540 G ADDITIVE 0 0071038 0 85
DLG2 2399 11233641 G DOMINANT 0 0091873 0 80
DLG2 2400 7116939 C DOMINANT 0 0180733 0 82
DLG2 2401 10898133 A ADDITIVE 0 0138623 0 83
DLG2 2402 6592120 G ADDITIVE 0 0238984 0 86
DLG2 2403 7113167 C ADDITIVE 0 0169090 0 85
DLG2 2404 515618 C ADDITIVE 0 0351546 0 89
DLG2 2405 635823 G ADDITIVE 0 0224424 0 88
DLG2 2406 489567 C ADDITIVE 0 0339389 0 92
DLG2 2407 1367980 G ADDITIVE 0 0001342 1 25
DLG2 2408 4480567 C ADDITIVE 0 0001111 1 26
DLG2 2409 2060147 G ADDITIVE 0 0000526 1 28
DLG2 2410 983590 T ADDITIVE 0 0002851 1 26 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
DLG2 2411 11233711 T ADDITIVE 0 0007972 1 26
DLG2 2412 12225388 A ADDITIVE 0 0006237 1 26
DLG2 2413 10898148 A ADDITIVE 0 0003065 1 34
DLG2 2414 12222455 A ADDITIVE 0 0012133 1 23
DLG2 2415 10898152 C ADDITIVE 0 0009121 1 18
DLG2 2416 7950988 T ADDITIVE 0 0007903 1 25
DLG2 2417 1945309 A ADDITIVE 0 0042119 1 24
DLG2 2418 10898301 A ADDITIVE 0 0422705 0 90
OPCML 2424 1894193 C DOMINANT 0 0428955 0 83
OPCML 2425 7119286 T RECESSIVE 0 0349083 1 23
OPCML 2426 10791288 G RECESSIVE 00423356 0 80
OPCML 2427 2155777 A RECESSIVE 0 0480178 1 73
TSPAN9 2434 650180 T RECESSIVE 0 0274779 0 77
TSPAN9 2435 544668 G RECESSIVE 0 0448808 0 79
TMEM 16B 2436 2159952 A ADDITIVE 0 0117685 0 84
TMEM 16B 2438 3782652 G DOMINANT 0 0205163 0 79
TMEM 16B 2439 735393 A ADDITIVE 0 0048766 0 83
TMEM 16B 2440 2277403 G DOMINANT 0 0328471 0 81
TMEM 16B 2441 11832095 A DOMINANT 0 0051263 0 78
TMEM 16B 2442 11063875 T DOMINANT 0 0038849 0 78
PIK3C2G 2461 4471494 C DOMINANT 0 0312098 0 76
PIK3C2G 2462 7968533 C DOMINANT 0 0267659 0 75
PIK3C2G 2464 10841059 A DOMINANT 0 0326190 0 83
ITPR2 2466 9442 T DOMINANT 0 0464723 0 84
ITPR2 2467 2570 C DOMINANT 0 0243506 0 82
ITPR2 2468 7955049 G DOMINANT 0 0290689 0 82
CNOT2 2476 7312236 C RECESSIVE 0 0187919 0 66
KCNC2 2478 4309217 A RECESSIVE 0 0489126 1 34
KCNC2 2479 4131954 T RECESSIVE 0 0463830 1 36
KCNC2 2480 2471653 T ADDITIVE 0 0255763 1 12
NAV3 2481 300447 C DOMINANT 0 0466417 1 19
NAV3 2482 2694667 A ADDITIVE 0 0174834 1 18
NAV3 2483 1375287 C DOMINANT 0 0454615 1 19
GAS2L3 2484 35716 A DOMINANT 0 0078126 0 78
GAS2L3 2485 35714 T DOMINANT 0 0151061 0 79
GAS2L3 2486 35711 G DOMINANT 0 0155281 0 80
CHSTI l 2488 2453161 G RECESSIVE 0 0303619 0 71
CHSTI l 2490 2642109 T RECESSIVE 0 0322027 0 74
CHSTI l 2491 1565815 T RECESSIVE 0 0076800 0 66
CHSTI l 2492 1038968 C RECESSIVE 0 0117274 0 69
CHSTI l 2493 2696006 T RECESSIVE 0 0076488 0 66
CHSTI l 2494 2463017 C RECESSIVE 0 0052053 0 65
CHSTI l 2495 2468082 G RECESSIVE 0 0199536 0 72
CHSTI l 2496 2468083 A RECESSIVE 0 0209249 0 69
KIAAl 853 2497 7134748 G DOMINANT 0 0081069 0 80
KIAAl 853 2498 7298308 C DOMINANT 0 0183467 0 81
KIAAl 853 2499 11064675 C RECESSIVE 0 0344640 1 43
KIAAl 853 2500 7136574 T DOMINANT 0 0268004 0 82
KIAAl 853 2501 4075945 T DOMINANT 0 0335334 0 78
KIAAl 853 2502 4075946 T RECESSIVE 0 0013569 1 38
PLA2G1B 2503 5637 A ADDITIVE 0 0455980 0 87
RIMBP2 2504 7132917 A DOMINANT 0 0315735 0 69
STX2 2507 1554807 T ADDITIVE 0 0488395 1 13 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
STX2 2508 7975825 C ADDITIVE 0 0443082 1 14
STX2 2509 4619189 T DOMINANT 0 0275395 1 23
STX2 2510 7956851 C ADDITIVE 0 0391212 1 14
KIAAl 545 2511 3751309 G DOMINANT 0 0019743 1 37
KIAAl 545 2512 11208 C DOMINANT 0 0287632 1 22
MTIF3 2513 2892058 G DOMINANT 0 0254705 0 58
MTIF3 2514 17085657 C DOMINANT 0 0390401 0 63
UBL3 2516 11618361 A RECESSIVE 0 0202510 0 77
N4BP2L2 2517 206335 C RECESSIVE 0 0320207 0 79
NBEA 2520 1148328 C DOMINANT 0 0464549 1 30
NBEA 2521 2247674 A DOMINANT 0 0475123 1 28
NBEA 2522 2243774 C DOMINANT 0 0173986 1 25
NBEA 2523 499570 A DOMINANT 0 0449816 1 28
NBEA 2525 9315346 T DOMINANT 0 0266363 0 82
NBEA 2526 7333195 T DOMINANT 0 0225556 0 82
NBEA 2527 3794394 G DOMINANT 0 0195103 0 81
TRPC4 2528 7319022 A DOMINANT 0 0378172 1 21
TRPC4 2529 1556541 C DOMINANT 0 0048620 1 29
TRPC4 2530 12858218 A RECESSIVE 0 0252777 0 79
TRPC4 2531 9548043 G DOMINANT 0 0015744 1 32
TRPC4 2532 1759875 G DOMINANT 0 0182381 0 80
KPNA3 2536 9526614 G DOMINANT 0 0059645 0 78
PCDHl 7 2538 9527675 G RECESSIVE 0 0155568 1 37
PCDHl 7 2539 9527676 G RECESSIVE 0 0111272 1 38
PCDHl 7 2540 2592866 A DOMINANT 0 0392094 1 21
PCDHl 7 2541 17175693 A DOMINANT 0 0243714 1 23
PCDH20 2542 9539153 T RECESSIVE 0 0101180 0 57
LMO7 2545 579540 C ADDITIVE 0 0227271 1 24
LMO7 2546 2273996 T ADDITIVE 0 0331422 1 17
SLAINl 2547 2813740 T ADDITIVE 0 0261869 0 84
SLAINl 2548 9530678 A ADDITIVE 0 0182447 0 83
SLAINl 2549 9593251 T ADDITIVE 0 0113857 0 90
SLAINl 2550 7997533 G ADDITIVE 0 0047501 0 80
SLAINl 2551 9600917 C ADDITIVE 0 0045485 0 82
SLAINl 2552 1279446 C ADDITIVE 0 0063095 0 85
GPC5 2554 9523304 A RECESSIVE 0 0068650 1 37
GPC5 2555 7322734 A RECESSIVE 0 0073729 1 37
GPC5 2556 4142965 C RECESSIVE 0 0133525 1 31
GPC5 2557 9523312 G RECESSIVE 0 0057670 1 38
GPC5 2558 8002779 G RECESSIVE 0 0079325 1 36
GPC5 2561 17267257 C RECESSIVE 0 0359110 1 34
GPC5 2563 10507993 G ADDITIVE 0 0409083 1 12
GPC6 2566 9561374 T ADDITIVE 0 0252836 1 11
GPC6 2567 3899317 A DOMINANT 0 0470229 0 83
GPC6 2568 1330620 A DOMINANT 0 0292062 0 83
GPC6 2569 9589816 A DOMINANT 0 0490167 0 84
GPC6 2570 4394948 C DOMINANT 0 0233102 0 82
GPC6 2571 7987964 T DOMINANT 0 0191043 0 82
GPC6 2572 7993501 C DOMINANT 0 0251535 0 82
GPC6 2573 9584153 C DOMINANT 0 0226752 0 82
GPC6 2574 9561444 T ADDITIVE 0 0342887 0 86
GPC6 2575 885192 G ADDITIVE 0 0383759 0 85
GPC6 2576 3759423 A ADDITIVE 0 0404510 0 87 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
GPC6 2577 3759422 A ADDITIVE 0 0317214 0 85
GPC6 2578 4486746 T ADDITIVE 0 0304719 0 87
GPC6 2579 9556328 T ADDITIVE 0 0342887 0 86
GPC6 2580 7317144 A ADDITIVE 0 0284312 0 85
GPC6 2581 2150124 T ADDITIVE 0 0198515 0 85
GPC6 2582 2892667 G ADDITIVE 0 0185626 0 87
GPC6 2583 1411507 C ADDITIVE 0 0183944 0 86
GPC6 2584 1983987 A ADDITIVE 0 0168726 0 85
GPC6 2585 2183430 T ADDITIVE 0 0232996 0 85
GPC6 2586 1411513 T ADDITIVE 0 0201909 0 85
GPC6 2587 9301916 C ADDITIVE 00136589 0 87
GPC6 2588 9524268 T ADDITIVE 0 0203651 0 87
GPC6 2589 9301957 A RECESSIVE 0 0278119 0 66
NALCN 2601 7992226 G RECESSIVE 0 0147207 1 42
NALCN 2602 570252 C RECESSIVE 0 0092784 1 30
FGF 14 2614 12870187 T RECESSIVE 0 0144408 0 73
TTC5 2616 4981948 C ADDITIVE 0 0220117 1 21
TTC5 2617 3737220 A ADDITIVE 0 0147145 1 20
TTC5 2618 4981951 C ADDITIVE 0 0450037 1 17
TTC5 2619 1953552 A ADDITIVE 0 0374421 0 84
TTC5 2620 2318864 G DOMINANT 0 0292801 1 21
TTC5 2621 3742945 A DOMINANT 0 0472652 1 19
TTC5 2622 10873395 T DOMINANT 0 0347043 1 20
TEPl 2623 1760904 C ADDITIVE 0 0020357 1 21
TEPl 2624 1713458 T DOMINANT 0 0048196 1 32
TEPl 2625 1760903 T ADDITIVE 0 0024041 1 27
TEPl 2626 1713440 T RECESSIVE 0 0225677 1 34
NOVAl 2630 8008779 C RECESSIVE 0 0409157 0 61
SLC25A21 2633 7359156 G DOMINANT 0 0248664 0 82
SLC25A21 2634 1884777 T ADDITIVE 0 0250316 1 25
GNG2 2644 8014746 G ADDITIVE 0 0124262 0 82
GNG2 2645 8019331 A ADDITIVE 0 0232918 0 85
GNG2 2646 8008081 A ADDITIVE 0 0324350 0 86
DAAMl 2651 10873113 T RECESSIVE 0 0181338 0 53
DAAMl 2652 10483710 A RECESSIVE 0 0259872 0 55
PPP2R5E 2663 6573522 A RECESSIVE 0 0329840 1 41
PPP2R5E 2664 2754223 G RECESSIVE 0 0468080 1 37
PPP2R5E 2666 964954 G RECESSIVE 0 0214470 1 44
PPP2R5E 2667 1255771 G RECESSIVE 0 0163658 1 53
PPP2R5E 2670 7156393 T RECESSIVE 0 0304882 4 73
RGS6 2671 8003168 A ADDITIVE 0 0272940 0 85
RGS6 2672 11629078 G ADDITIVE 0 0102800 0 86
RGS6 2674 12894979 G DOMINANT 0 0192980 0 79
RGS6 2675 10149098 G DOMINANT 0 0067421 0 79
RGS6 2676 4903003 G DOMINANT 0 0232287 0 80
RGS6 2677 2139594 G DOMINANT 0 0372164 0 82
RGS6 2678 8007922 G DOMINANT 0 0371972 0 82
RGS6 2679 740337 C DOMINANT 0 0402133 0 83
RGS6 2680 2681754 A DOMINANT 0 0263361 0 81
RGS6 2681 2283380 T ADDITIVE 0 0044408 0 84
RGS6 2682 4903024 T RECESSIVE 0 0037284 0 64
RGS6 2683 2074953 G ADDITIVE 0 0110725 0 86
RGS6 2684 2239272 G ADDITIVE 0 0110812 0 90 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
KCNKlO 2688 17771758 G RECESSIVE 0 0230278 0 72
KCNKlO 2689 2223933 C RECESSIVE 0 0225705 0 72
KCNKlO 2690 1950279 T RECESSIVE 0 0225705 0 72
KCNKlO 2691 11628680 G RECESSIVE 0 0238746 0 72
KCNKlO 2692 11844638 T RECESSIVE 0 0138222 0 70
KCNKlO 2693 17698533 C RECESSIVE 0 0010514 0 60
KCNKlO 2694 12185033 T ADDITIVE 0 0298994 0 92
KCNK13 2695 12432204 G ADDITIVE 0 0082331 1 22
KCNK13 2696 12894287 T DOMINANT 0 0070356 1 27
KCNK13 2697 12885846 T ADDITIVE 0 0181878 1 16
CCDC88C 2700 1970912 T RECESSIVE 00427118 1 25
CCDC88C 2701 17127245 A ADDITIVE 0 0000056 1 98
CCDC88C 2702 1046311 C RECESSIVE 0 0126923 0 51
CCDC88C 2703 8015982 C RECESSIVE 0 0354492 0 67
CCDC88C 2704 10131741 G RECESSIVE 0 0461950 0 68
CCDC88C 2705 8008996 T RECESSIVE 0 0344292 0 66
CCDC88C 2706 8007791 A RECESSIVE 0 0354492 0 67
CCDC88C 2709 11160006 C DOMINANT 0 0137069 1 26
ATPlOA 2711 12592145 T RECESSIVE 0 0186787 0 25
ATPlOA 2712 17555920 T RECESSIVE 0 0300942 >5
ATPlOA 2713 17116015 A RECESSIVE 0 0423953 0 33
ATPlOA 2714 17555995 C RECESSIVE 0 0299790 >5
ATPlOA 2715 2066703 T RECESSIVE 0 0411497 0 23
ATPlOA 2716 11637231 G RECESSIVE 0 0308049 0 73
ATPlOA 2717 9888671 T RECESSIVE 0 0272411 0 45
RYR3 2718 2596229 A DOMINANT 0 0252864 1 24
RYR3 2719 1560968 G DOMINANT 0 0080819 1 28
RYR3 2720 2676085 A DOMINANT 0 0242734 1 22
RYR3 2721 2676087 A DOMINANT 0 0031600 1 34
RYR3 2722 2164249 C DOMINANT 0 0138068 1 26
RYR3 2723 2596159 T DOMINANT 0 0075480 1 29
RYR3 2724 2596163 G DOMINANT 0 0077911 1 28
RYR3 2726 2082753 A DOMINANT 0 0165656 1 25
RYR3 2727 2572175 A DOMINANT 0 0361360 1 23
RYR3 2728 2572169 A DOMINANT 0 0327803 1 22
RYR3 2729 2596175 A DOMINANT 0 0311287 1 23
RYR3 2731 11853872 A DOMINANT 0 0228117 0 76
RYR3 2733 6495228 G DOMINANT 0 0099332 1 28
C15ORF41 2735 7183415 C RECESSIVE 0 0249613 3 08
RASGRPl 2746 17651741 A DOMINANT 0 0290584 1 21
UNC13C 2749 2163195 A DOMINANT 0 0074064 0 79
UNC13C 2750 2115825 A DOMINANT 0 0296225 0 80
UNC13C 2751 8024845 G DOMINANT 0 0017932 0 76
UNC13C 2752 1897013 G ADDITIVE 0 0259308 0 83
UNC13C 2753 1864416 T ADDITIVE 0 0235201 0 83
UNC13C 2754 11636356 T ADDITIVE 0 0215324 0 83
UNC13C 2755 934192 A ADDITIVE 0 0133643 0 82
UNC13C 2767 9920150 G RECESSIVE 0 0411190 2 84
NEDD4 2768 10518828 A RECESSIVE 0 0234715 0 13
CGNLl 2771 17820281 A RECESSIVE 0 0053568 0 60
GRINLlA 2772 9920308 A RECESSIVE 0 0328098 0 78
GRINLlA 2773 9920106 T ADDITIVE 0 0126832 0 87
GRINLlA 2774 16953342 C RECESSIVE 0 0412209 0 79 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
GRINLlA 2775 16977629 T DOMINANT 0 0086808 0 69
GRINLlA 2776 16977631 C DOMINANT 0 0143872 0 77
ADAMlO 2779 2414607 A ADDITIVE 0 0252614 1 19
CLK3 2781 2068982 A DOMINANT 0 0351073 0 80
ARNT2 2786 7172548 T RECESSIVE 0 0339851 0 70
ARNT2 2787 4459508 A RECESSIVE 0 0222836 0 67
AKAP 13 2790 17623915 C RECESSIVE 0 0382878 1 55
AKAP 13 2803 8041467 A RECESSIVE 0 0362968 0 75
AKAP 13 2806 11638762 T DOMINANT 0 0384566 1 21
AKAP 13 2809 338515 C RECESSIVE 0 0413126 0 23
SV2B 2816 2239994 A DOMINANT 00147181 077
SLCO3A1 2817 8037251 T RECESSIVE 0 0417847 1 39
SLCO3A1 2818 207970 T ADDITIVE 0 0381480 1 13
SLCO3A1 2819 7175812 C RECESSIVE 0 0047319 0 35
IGFlR 2823 1574213 A RECESSIVE 0 0270750 0 63
IGFlR 2824 11854132 A RECESSIVE 0 0238766 0 68
IGFlR 2825 7170035 G RECESSIVE 0 0201919 0 61
A2BP1 2828 12445131 C RECESSIVE 0 0445886 2 61
A2BP1 2832 12600141 T DOMINANT 0 0068865 0 79
A2BP1 2833 7191740 C ADDITIVE 0 0280927 0 85
A2BP1 2834 17144423 T DOMINANT 0 0421914 0 83
A2BP1 2835 2079753 T DOMINANT 0 0075058 0 79
TMC5 2837 1985395 C RECESSIVE 0 0063044 0 66
TMC5 2838 7198723 C RECESSIVE 0 0496953 0 66
GOT2 2842 30842 T DOMINANT 0 0187610 1 22
GOT2 2843 257634 C DOMINANT 0 0091372 1 26
GOT2 2844 257637 T DOMINANT 0 0086536 1 26
GOT2 2845 171786 T DOMINANT 0 0066105 1 27
GOT2 2846 257621 C DOMINANT 0 0092573 1 26
GOT2 2847 185397 T DOMINANT 0 0076979 1 26
GOT2 2848 11076262 G DOMINANT 0 0133323 1 24
GOT2 2849 6499976 A DOMINANT 0 0121080 1 24
GOT2 2850 1595181 A DOMINANT 0 0065869 1 27
GOT2 2851 10852565 C DOMINANT 0 0139807 1 24
GOT2 2852 4784986 T DOMINANT 0 0134433 1 24
GOT2 2853 6416775 C DOMINANT 0 0491326 1 21
PLCG2 2858 9646328 G RECESSIVE 0 0203369 0 77
MPHOSPH6 2859 12149621 T DOMINANT 0 0320370 0 82
MPHOSPH6 2860 4889467 C ADDITIVE 0 0142780 0 89
MPHOSPH6 2861 2081257 G RECESSIVE 0 0154834 0 34
MPHOSPH6 2862 4889476 G ADDITIVE 0 0065039 0 88
MPHOSPH6 2863 2967355 A ADDITIVE 0 0477083 0 91
MPHOSPH6 2864 2967370 A RECESSIVE 0 0162193 0 74
MPHOSPH6 2865 1862820 C RECESSIVE 0 0253166 0 75
MPHOSPH6 2866 2911391 G RECESSIVE 0 0218882 0 74
MPHOSPH6 2867 2967337 C RECESSIVE 0 0392984 0 53
CDH13 2868 12325628 G ADDITIVE 0 0393312 0 88
CDH13 2870 9940179 A DOMINANT 0 0396491 1 20
KIAAO 182 2875 3815794 T RECESSIVE 0 0145556 1 37
KIAAO 182 2876 736845 T ADDITIVE 0 0008466 0 80
KIAAO 182 2877 9940601 A ADDITIVE 0 0081450 0 87
KIAAO 182 2878 1049868 C RECESSIVE 0 0003614 0 54
KIAAO 182 2879 1053328 A RECESSIVE 0 0030174 1 50 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
GAS7 2880 1558226 G DOMINANT 0 0349526 0 82
DNAH9 2882 2286305 T DOMINANT 0 0191343 0 80
RAB11FIP4 2884 9901334 T ADDITIVE 0 0147545 0 85
CAlO 2887 11655715 T RECESSIVE 0 0182340 0 44
MSI2 2893 1477065 G RECESSIVE 0 0245468 0 72
MSI2 2894 4608395 C RECESSIVE 0 0461877 0 65
DNAH 17 2897 7211232 T RECESSIVE 0 0028899 0 15
HRNBP3 2900 4313838 C RECESSIVE 0 0180130 0 75
HRNBP3 2901 4313839 C RECESSIVE 0 0259572 0 76
PTPRM 2911 1470323 T RECESSIVE 0 0136419 0 73
PTPRM 2912 11081352 T RECESSIVE 00027436 0 65
PTPRM 2913 2156236 T RECESSIVE 0 0077796 0 70
PTPRM 2914 5000485 T RECESSIVE 0 0039162 0 68
PTPRM 2915 1942958 T RECESSIVE 0 0065194 0 69
PTPRM 2916 8088354 A RECESSIVE 0 0033035 0 67
PTPRM 2917 649598 T RECESSIVE 0 0079161 0 70
PTPRM 2918 623258 T RECESSIVE 0 0056093 0 70
PTPRM 2920 619379 C RECESSIVE 0 0126593 0 72
PTPRM 2921 502843 T RECESSIVE 0 0253166 0 75
PTPRM 2922 552448 T RECESSIVE 0 0089282 0 70
PTPRM 2923 507445 T RECESSIVE 0 0183559 0 74
OSBPLlA 2929 6508259 A ADDITIVE 0 0014763 1 24
CHST9 2932 4800787 T DOMINANT 0 0105520 1 25
CHST9 2933 2162412 A ADDITIVE 0 0084702 1 15
CHST9 2934 9949654 C ADDITIVE 0 0105674 1 15
CHST9 2935 9965371 C ADDITIVE 0 0141501 1 23
CHST9 2936 1426879 G ADDITIVE 0 0351731 1 13
CHST9 2937 4800797 G ADDITIVE 0 0091123 1 16
CHST9 2938 9948409 A ADDITIVE 0 0303283 1 10
KIAA0427 2942 8095607 A ADDITIVE 0 0332070 1 27
KIAA0427 2949 1319945 G RECESSIVE 0 0326970 0 42
DCC 2951 17383821 G RECESSIVE 0 0163221 1 42
DCC 2954 9964026 G ADDITIVE 0 0398037 1 16
DCC 2959 8084200 A DOMINANT 0 0412987 0 83
DCC 2964 9953546 G RECESSIVE 0 0483463 2 57
DCC 2965 1394466 A RECESSIVE 0 0256019 1 26
DCC 2966 17504520 G RECESSIVE 0 0280368 1 26
DCC 2967 11876282 G RECESSIVE 0 0321682 1 25
DCC 2968 11876941 G RECESSIVE 0 0392771 1 24
DCC 2969 2270954 A RECESSIVE 0 0357727 1 94
NEDD4L 2970 7243469 G DOMINANT 0 0412457 0 77
NEDD4L 2971 4941312 T DOMINANT 0 0404941 0 77
NEDD4L 2972 17064338 C DOMINANT 0 0289103 0 76
CCBEl 2974 895005 T DOMINANT 0 0369089 1 20
TXNDClO 2975 507533 C ADDITIVE 0 0460221 1 21
TXNDClO 2976 12605752 A RECESSIVE 0 0283574 0 27
TXNDClO 2977 7227089 T RECESSIVE 0 0284949 0 27
TXNDClO 2978 1477992 G RECESSIVE 0 0331144 0 14
TXNDClO 2979 309228 A RECESSIVE 0 0279392 0 34
TXNDClO 2980 309251 C RECESSIVE 0 0406452 0 36
TXNDClO 2981 309242 G RECESSIVE 0 0087933 0 29
TXNDClO 2982 590974 T DOMINANT 0 0480823 1 19
DOK6 2983 9947842 C RECESSIVE 0 0143136 0 51 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
DOK6 2995 4438406 C DOMINANT 0 0044738 1 30
LDLR 3001 2738456 C RECESSIVE 0 0433496 0 75
RNF24 3005 241611 T DOMINANT 0 0004744 0 74
RNF24 3006 241612 A DOMINANT 0 0009164 0 75
RNF24 3007 6084530 C DOMINANT 0 0163967 0 81
PRNT 3009 2245220 T RECESSIVE 0 0374102 0 81
PRNT 3010 2756262 A ADDITIVE 0 0170211 0 91
PRNT 3011 2422932 A DOMINANT 0 0057154 1 27
PRNT 3012 6084858 C RECESSIVE 0 0489977 0 80
PRNT 3013 730999 T RECESSIVE 0 0394947 0 79
PLCBl 3021 6055577 A RECESSIVE 00167900 1 77
PLCBl 3022 2235212 A RECESSIVE 0 0331976 1 49
PLCBl 3023 6055601 A RECESSIVE 0 0212322 1 65
PLCBl 3024 13044527 A RECESSIVE 0 0432858 1 36
PLCBl 3025 6039117 T RECESSIVE 0 0489716 1 35
PLCB4 3028 6056454 G ADDITIVE 0 0159695 0 86
PLCB4 3029 4816126 A ADDITIVE 0 0314437 0 84
PLCB4 3030 2145266 C ADDITIVE 0 0193561 0 85
PLCB4 3031 2208295 C ADDITIVE 0 0116134 0 83
PLCB4 3032 6086808 T DOMINANT 0 0355663 0 82
JAGl 3036 3790158 A RECESSIVE 0 0152506 >5
JAGl 3037 3748477 T RECESSIVE 0 0152506 >5
JAGl 3038 3748478 T RECESSIVE 0 0152506 >5
MACROD2 3040 459322 C ADDITIVE 0 0377449 0 92
MACROD2 3042 4814383 G RECESSIVE 0 0026275 0 51
MACROD2 3044 1233763 C RECESSIVE 0 0153543 0 61
MACROD2 3045 1233769 G RECESSIVE 0 0336831 0 63
MACROD2 3047 175810 G RECESSIVE 0 0239964 0 57
MACROD2 3048 175805 T RECESSIVE 0 0464941 0 62
PTPRT 3052 6016664 G DOMINANT 0 0474778 1 19
PTPRT 3053 6029979 T DOMINANT 0 0496507 1 19
PTPRT 3054 6016798 C RECESSIVE 0 0216889 0 77
PTPRT 3055 2076082 A RECESSIVE 0 0254923 0 77
PTPRT 3056 6065482 C RECESSIVE 0 0271959 0 78
PTPRT 3057 6030395 T RECESSIVE 0 0330898 1 43
PTGIS 3064 12625166 T RECESSIVE 0 0300284 >5
BMP7 3066 162313 A RECESSIVE 0 0457414 2 24
BMP7 3068 1015985 A RECESSIVE 0 0457414 2 24
GNAS 3071 7121 T DOMINANT 0 0144299 1 27
CDH4 3073 1891490 A ADDITIVE 0 0135434 1 13
CDH4 3074 3752252 G DOMINANT 0 0086970 1 26
CDH4 3075 1970546 A ADDITIVE 0 0035930 1 21
CDH4 3086 6061845 G ADDITIVE 0 0156651 0 88
CDH4 3087 1891572 T DOMINANT 0 0372843 0 83
CDH4 3088 17811544 G DOMINANT 0 0279199 0 82
CDH4 3089 6142875 T DOMINANT 0 0249437 0 82
NCAM2 3090 2226806 C RECESSIVE 0 0022837 1 42
NCAM2 3091 2826349 G RECESSIVE 0 0183510 1 44
NCAM2 3092 2826351 A RECESSIVE 0 0203522 1 43
NCAM2 3094 11702660 A RECESSIVE 0 0344979 7 10
NCAM2 3095 232490 C DOMINANT 0 0133412 0 81
NCAM2 3096 232491 T DOMINANT 0 0081579 0 79
NCAM2 3097 2826815 T DOMINANT 0 0017598 0 76 TABLE 1: Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses
Gene Seq ID NCBI RS# Allele Model P Odds Ratio
NCAM2 3098 232509 T ADDITIVE 0 0078224 0 81
NCAM2 3099 232516 A DOMINANT 0 0163957 0 81
NCAM2 3100 2826818 G DOMINANT 0 0015795 0 76
NCAM2 3101 232424 T DOMINANT 0 0064791 0 79
NCAM2 3102 2826826 A DOMINANT 0 0026054 0 77
NCAM2 3103 232446 G DOMINANT 0 0060568 0 79
NCAM2 3104 2847461 T DOMINANT 0 0017547 0 76
NCAM2 3105 2826830 G ADDITIVE 0 0115585 0 81
NCAM2 3106 3787603 G ADDITIVE 0 0111789 0 82
SLC37A1 3113 12483006 A RECESSIVE 0 0195839 1 73
SLC37A1 3116 1788421 G DOMINANT 00073634 079
PDE9A 3117 2269139 T RECESSIVE 0 0363891 1 93
PDE9A 3118 2269143 A RECESSIVE 0 0319822 2 04
PDE9A 3119 2269173 G ADDITIVE 0 0048662 0 89
ASPHD2 3121 11913750 C DOMINANT 0 0310367 0 73
ASPHD2 3122 16982107 T DOMINANT 0 0360544 0 74
TTLLl 3124 5996268 C ADDITIVE 0 0470533 0 78
EFCAB 6 3125 137746 C RECESSIVE 0 0364594 1 93
EFCAB 6 3126 137767 T RECESSIVE 0 0254356 2 01
EFCAB 6 3127 137801 A RECESSIVE 0 0333977 2 26
EFCAB 6 3128 1013039 C RECESSIVE 0 0494874 1 87
EFCAB 6 3129 5764302 G RECESSIVE 0 0254356 2 01
SULT4A1 3130 5764318 C RECESSIVE 0 0175703 0 50
SULT4A1 3131 2066915 C ADDITIVE 0 0262448 1 13
SULT4A1 3133 2285162 A RECESSIVE 0 0311834 0 69
SULT4A1 3134 2285166 T RECESSIVE 0 0307734 0 68
SULT4A1 3135 2285167 A RECESSIVE 0 0080914 0 46
SULT4A1 3137 5764367 T RECESSIVE 0 0352891 0 69
RIBC2 3138 5765397 A RECESSIVE 0 0330656 1 26
RIBC2 3139 2092101 G RECESSIVE 0 0292451 1 27
RIBC2 3140 5764751 C RECESSIVE 0 0338442 1 24
RIBC2 3141 5765425 A RECESSIVE 0 0188752 1 30
Example 2. Genotypes and Alleles that contribute to risk of BD or SZ
The same methods described above in Example 1 to identify SNPs that were differentially associated with BD or SZ. Specifically, this analysis examined alleles that contributed to a diagnosis of either BD or SZ. For example, a given SNP could enhance likelihood of diagnosis of both BD and SZ. Those SNPs that contribute to the likelihood of diagnosis of both diseases may be those SNPs that contribute the overlapping symptom pattern between BD and SZ, e.g. SNPs that contribute to mania, depression, or delusions.
Table 2 lists alleles and genotypes influencing a diagnosis of, or risk of developing, BD or SZ. 640 BD cases, and a randomly selected subset of 640 SZ cases, and 1378 neurologically normal controls were used to identify these alleles and genotypes. Briefly, BD cases and SZ cases were both considered cases and were coded as a 1 (or case) and each control was coded as 0. Combining BD and SZ in this manner identifies those SNPs that contribute to a diagnosis of, or risk of developing, broadly defined serious psychiatric illness (psychosis). Using this coding and genotypes provided by GAIN, case control analysis was performed using various genetic models (recessive, dominant and additive) in Golden Helix's SNP and Variation Suite v 7.0 (SVS™). Table 1 lists the gene, sequence ID, NCBI RS number, test allele, genetic model, odds ratio, and p- value for the comparison. In this example, an OR greater than 1 indicates that the subject has a greater likelihood of a BD or SZ diagnosis. Similarly, an OR less than 1 indicates that the subject has a lower likelihood of a BD or SZ diagnosis.
TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
RP1-21O18 1 5 1000313 G ADDITIVE 0 023031 1 13
RP1-21O18 1 6 4501834 C ADDITIVE 0 010524 1 14
RP1-21O18 1 7 10803349 A ADDITIVE 0 007056 1 15
RP1-21O18 1 8 4661575 T RECESSIVE 0 002888 1 45
AGBL4-C1ORF165 13 11205538 C DOMINANT 0 003952 1 23
AGBL4-C1ORF165 14 7520784 A DOMINANT 0 005937 1 21
AGBL4-C1ORF165 15 10888622 G DOMINANT 0 010006 1 20
AGBL4-C1ORF165 16 4926759 C DOMINANT 0 015223 1 19
AGBL4-C1ORF165 17 1934368 C DOMINANT 0 020949 1 18
AGBL4-C1ORF165 19 3122291 T DOMINANT 0 001607 1 25
AGBL4-C1ORF165 20 3121512 C DOMINANT 0001749 1 27
AGBL4-C1ORF165 21 3118215 A ADDITIVE 0 004611 1 23
AGBL4-C1ORF165 22 3118223 G ADDITIVE 0 003490 1 23
AGBL4-C1ORF165 23 3121273 G ADDITIVE 0 001892 1 23
AGBL4-C1ORF165 24 3127556 G ADDITIVE 0 003664 1 22
AGBL4-C1ORF165 25 3121518 A ADDITIVE 0 003788 1 21
AGBL4-C1ORF165 26 6669433 A ADDITIVE 0 004697 1 23
AGBL4-C1ORF165 27 7520773 T RECESSIVE 0 004313 1 38
LRP8 28 17785382 G RECESSIVE 0 000489 0 71
LRP8 29 5177 C ADDITIVE 0 002955 0 89
LRP8 30 11206127 A DOMINANT 0 001922 0 79
LRP8 31 869987 T DOMINANT 0 001601 0 79
LRP8 32 869988 C DOMINANT 0 001625 0 79
LRP8 33 2297660 A ADDITIVE 0 003823 0 89
LRP8 34 2297657 A RECESSIVE 0 004002 0 75
LRP8 35 4623641 T RECESSIVE 0 022652 0 79
PRKACB 39 589373 A ADDITIVE 0 045631 1 15
SLC6A17 40 17671169 A ADDITIVE 0 044442 1 11
SLC6A17 41 495959 T ADDITIVE 0 015930 0 82
SLC16A4 43 4498805 G ADDITIVE 0 026757 0 83
SLC16A4 44 2271885 C ADDITIVE 0 047401 1 32
SYT6 46 611514 A RECESSIVE 0 011843 0 80
NGF 47 7523654 T ADDITIVE 0 000414 1 31
NGF 48 11102924 G DOMINANT 0 001940 1 27
NGF 49 10776799 G DOMINANT 0 000102 1 34
NGF 50 4332358 T DOMINANT 0 000031 1 34
NGF 51 17033706 A DOMINANT 0 000303 1 33
SLC22A15 53 2488432 T DOMINANT 0 043650 0 87
PTGFRN 56 12090536 G RECESSIVE 0 009209 0 71
PTGFRN 57 7552382 G RECESSIVE 0 012344 0 73
PTGFRN 58 3829881 A DOMINANT 0 007166 1 24
CGN 60 10788807 G DOMINANT 0 049612 0 85
ATF6 63 905594 T ADDITIVE 0 009476 0 83
ATF6 66 1875762 T ADDITIVE 0 001909 0 80
ATF6 68 10918029 A ADDITIVE 0 000629 0 71
ATF6 79 2499854 G ADDITIVE 0 045617 0 88
OLFML2B 80 4657130 G RECESSIVE 0 001979 0 72
OLFML2B 81 4657131 A RECESSIVE 0 001212 0 70
OLFML2B 82 2490420 G RECESSIVE 0 002385 0 71
OLFML2B 83 4657132 G RECESSIVE 0 000790 0 71
OLFML2B 84 6691548 C RECESSIVE 0 000739 0 70
CACNAlE 92 553042 C DOMINANT 0 005496 1 22
CACNAlE 93 486708 T DOMINANT 0 009729 1 20 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
CACNAlE 94 17441683 A ADDITIVE 0 015582 1 21
CACNAlE 95 17494681 T ADDITIVE 0 014240 1 23
LAMCl 103 6658501 A DOMINANT 0 000552 0 76
LAMCl 104 4652772 G DOMINANT 0 001674 0 78
LAMCl 105 3935384 G DOMINANT 0 000298 0 75
LAMCl 106 10797829 A DOMINANT 0 000298 0 75
LAMCl 107 10911232 T RECESSIVE 0 003177 1 32
LAMCl 108 12091137 A DOMINANT 0 000146 0 75
LAMCl 109 12086466 T DOMINANT 0 000103 0 74
LAMCl 110 10797838 A DOMINANT 0 000079 0 74
LAMCl 111 10797839 T DOMINANT 0000065 0 74
LAMCl 112 10752898 T DOMINANT 0 000043 0 73
LAMCl 113 10797842 G DOMINANT 0 000062 0 73
LAMCl 114 6424888 A DOMINANT 0 000122 0 74
LAMCl 115 20563 A DOMINANT 0 000133 0 75
LAMCl 116 3768617 A RECESSIVE 0 002595 1 32
LAMCl 117 7518957 A DOMINANT 0 000063 0 74
LAMCl 118 1360704 G RECESSIVE 0 001865 1 33
LAMCl 119 2274984 C DOMINANT 0 000253 0 75
LAMCl 120 2027085 A DOMINANT 0 000180 0 75
KCNHl 123 1340127 C DOMINANT 0 017478 0 83
KCNHl 129 7537388 C RECESSIVE 0 041062 1 56
KCNK2 132 4655272 A DOMINANT 0 006028 1 24
KCNK2 133 10494994 A DOMINANT 0 013011 1 20
KCNK2 134 12038695 C DOMINANT 0 008288 1 22
KCNK2 135 11120519 A ADDITIVE 0 002214 1 28
KCNK2 137 11120527 T DOMINANT 0 003193 1 24
USH2A 138 11120538 A DOMINANT 0 005019 1 23
USH2A 139 6674743 T DOMINANT 0 006689 1 22
USH2A 140 2677117 A DOMINANT 0 024546 1 17
USH2A 141 2677111 C DOMINANT 0 009890 1 20
ESRRG 143 12027901 C DOMINANT 0 019424 1 23
ESRRG 144 7529655 A RECESSIVE 0 019137 0 60
RYR2 156 16835170 C RECESSIVE 0 021686 1 31
RYR2 157 2779397 C DOMINANT 0 017430 0 84
RYR2 158 2779400 A DOMINANT 0 022488 0 85
FMN2 162 12122068 C ADDITIVE 0 005347 0 80
FMN2 163 10926223 C ADDITIVE 0 010874 0 80
FMN2 164 12130718 A ADDITIVE 0 011256 0 86
KCNFl 192 2884310 G ADDITIVE 0 045453 1 11
NAG 193 3805093 C ADDITIVE 0 048493 0 87
NAG 194 10206116 C ADDITIVE 0 032081 0 86
HS1BP3 195 3732157 A ADDITIVE 0 012752 1 19
HS1BP3 196 1047176 T DOMINANT 0 005932 1 22
HS1BP3 197 7586298 T ADDITIVE 0 027521 1 18
ASXL2 210 6747116 C DOMINANT 0 009733 1 22
CIB4 213 11694917 T ADDITIVE 0 034547 0 79
DPYSL5 215 12991828 G DOMINANT 0 039784 0 86
DPYSL5 216 6756245 C DOMINANT 0 047309 0 86
BRE 217 6706209 C DOMINANT 0 018802 0 84
BRE 221 6738887 C DOMINANT 0 044436 0 87
CRIMl 224 2160367 C RECESSIVE 0 024909 1 22
CRIMl 225 711252 T DOMINANT 0 016634 0 83 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
CRIMl 226 848556 T DOMINANT 0 000503 0 76
CRIMl 227 848553 C DOMINANT 0 022784 0 83
CRIMl 228 848552 G DOMINANT 0 011423 0 82
CRIMl 229 848547 G DOMINANT 0 015172 0 82
CRIMl 230 3770852 A DOMINANT 0 001510 0 80
CRIMl 233 3770833 A DOMINANT 0 003501 0 81
CRIMl 234 2293254 G DOMINANT 0 011868 0 83
CRIMl 235 2287082 T DOMINANT 0 001615 0 80
CRIMl 236 3755197 A DOMINANT 0 003015 0 81
CRIMl 237 11681392 T DOMINANT 0 000473 0 78
FEZ2 238 10189344 C DOMINANT 0001795 0 80
FEZ2 239 10172196 A DOMINANT 0 000792 0 79
FEZ2 240 3770811 T DOMINANT 0 000125 0 76
FEZ2 241 1533949 T DOMINANT 0 001063 0 79
FEZ2 242 1533948 C DOMINANT 0 000233 0 77
FEZ2 243 1533946 G DOMINANT 0 000165 0 76
FEZ2 244 13406184 C DOMINANT 0 000122 0 76
FEZ2 245 17488036 G DOMINANT 0 000220 0 77
FEZ2 246 2022211 G DOMINANT 0 000419 0 77
FEZ2 247 10197570 T DOMINANT 0 001223 0 79
FEZ2 248 11691767 T DOMINANT 0 000737 0 79
FEZ2 249 10469898 G DOMINANT 0 001462 0 80
FEZ2 250 5003670 C DOMINANT 0 006521 0 82
CDC42EP3 252 15628 T ADDITIVE 0 032228 1 21
SLC8A1 253 6544318 A ADDITIVE 0 017655 0 81
SLC8A1 254 759384 C ADDITIVE 0 023659 0 84
SLC8A1 255 4952609 G ADDITIVE 0 023271 0 87
HAAO 256 13398984 T RECESSIVE 0 049160 0 72
HAAO 257 4564826 A ADDITIVE 0 003779 0 88
C2ORF34 261 786613 G DOMINANT 0 000401 1 28
C2ORF34 262 786616 G DOMINANT 0 008815 1 20
C2ORF34 263 786626 C DOMINANT 0 000284 1 29
C2ORF34 264 786624 T DOMINANT 0 000304 1 29
C2ORF34 265 1067343 A DOMINANT 0 007403 1 21
C2ORF34 266 1067386 G DOMINANT 0 000931 1 26
C2ORF34 267 1067383 G DOMINANT 0 006617 1 21
C2ORF34 268 1584885 C ADDITIVE 0 000081 1 32
C2ORF34 269 1067378 A DOMINANT 0 008498 1 21
C2ORF34 270 1067375 C DOMINANT 0 009726 1 20
C2ORF34 271 1067374 G DOMINANT 0 007631 1 21
C2ORF34 272 1067367 A DOMINANT 0 001689 1 25
C2ORF34 273 1065786 T DOMINANT 0 000625 1 27
C2ORF34 274 1067355 C DOMINANT 0 010313 1 20
C2ORF34 275 1085447 T DOMINANT 0 000515 1 28
C2ORF34 276 1067348 T DOMINANT 0 007260 1 21
C2ORF34 277 1067347 C DOMINANT 0 000360 1 29
C2ORF34 278 1067406 C DOMINANT 0 000404 1 29
C2ORF34 279 1067404 A DOMINANT 0 002957 1 24
C2ORF34 280 1067402 T DOMINANT 0 005635 1 22
C2ORF34 281 1067397 A DOMINANT 0 012315 1 20
C2ORF34 282 698792 A DOMINANT 0 010748 1 20
C2ORF34 283 786419 G DOMINANT 0 000789 1 27
C2ORF34 284 698793 C DOMINANT 0 007146 1 21 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
C2ORF34 285 2166453 G ADDITIVE 0 000143 1 28
C2ORF34 286 698809 A DOMINANT 0 015551 1 19
C2ORF34 287 698823 G DOMINANT 0 001215 1 26
C2ORF34 288 698824 C DOMINANT 0 000552 1 28
C2ORF34 289 698827 G DOMINANT 0 003581 1 23
C2ORF34 290 698828 T DOMINANT 0 006854 1 21
C2ORF34 291 698832 C DOMINANT 0 004858 1 22
C2ORF34 292 698833 T DOMINANT 0 004272 1 22
C2ORF34 293 786406 T DOMINANT 0 003550 1 23
C2ORF34 294 11888605 A DOMINANT 0 010202 1 21
C2ORF34 295 3862996 G DOMINANT 0000228 1 31
C2ORF34 296 1011798 C ADDITIVE 0 003870 1 22
C2ORF34 297 729310 A DOMINANT 0 003360 1 24
C2ORF34 298 2341457 A DOMINANT 0 006713 1 22
C2ORF34 299 1377906 G DOMINANT 0 045305 1 15
C2ORF34 300 7609431 C DOMINANT 0 045594 1 15
C2ORF34 301 4953101 T DOMINANT 0 009825 1 20
C2ORF34 303 13383854 G DOMINANT 0 003965 1 24
C2ORF34 304 6721746 A RECESSIVE 0 002125 0 52
C2ORF34 305 7603180 G RECESSIVE 0 019588 0 61
C2ORF34 306 11679997 T RECESSIVE 0 005864 0 56
PRKCE 307 2881068 C ADDITIVE 0 031005 0 88
PRKCE 308 4952792 C RECESSIVE 0 012801 0 77
PRKCE 310 12989656 T DOMINANT 0 029417 1 17
EPASl 311 1374749 A DOMINANT 0 002654 0 79
EPASl 312 10178633 A DOMINANT 0 009113 0 81
EPASl 313 13006131 G RECESSIVE 0 041003 1 18
AAKl 321 2312207 T DOMINANT 0 013618 0 82
CTNNA2 327 2566539 T ADDITIVE 0 032627 0 89
CTNNA2 332 7577376 G RECESSIVE 0 042889 1 83
CTNNA2 333 17018760 T RECESSIVE 0 027435 1 95
CTNNA2 334 1443897 C RECESSIVE 0 047455 1 84
CTNNA2 335 7576232 T RECESSIVE 0 036371 1 90
CTNNA2 336 7570531 C RECESSIVE 0 030140 1 97
CTNNA2 337 961408 G RECESSIVE 0 047146 1 84
CTNNA2 338 1446107 G RECESSIVE 0 019905 2 17
CTNNA2 339 1446108 A RECESSIVE 0 019950 2 17
CTNNA2 341 1965834 T ADDITIVE 0 037994 1 13
CTNNA2 342 1965833 G RECESSIVE 0 031176 1 74
CTNNA2 343 2165975 T RECESSIVE 0 039586 1 91
CTNNA2 344 6738092 C RECESSIVE 0 039410 1 92
INPP4A 345 17446058 G DOMINANT 0 020841 1 18
NAP5 346 12478698 C ADDITIVE 0 046440 0 85
NAP5 347 10174856 C ADDITIVE 0 035515 1 08
NAP5 348 1437904 T ADDITIVE 0 047914 1 07
NAP5 350 13421559 G RECESSIVE 0 020681 1 59
RAB3GAP1 351 10186594 G DOMINANT 0 018167 1 21
RAB3GAP1 352 17293519 G DOMINANT 0 026159 1 20
RAB3GAP1 353 2874739 T DOMINANT 0 022042 1 21
RAB3GAP1 355 3739028 G DOMINANT 0 036625 1 58
ZRANB3 356 1898524 T DOMINANT 0 040695 1 48
LRPlB 357 1492388 T RECESSIVE 0 005578 1 34
LRPlB 358 12479163 A RECESSIVE 0 007088 1 46 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
LRPlB 364 972485 A ADDITIVE 0 023486 1 17
LRPlB 366 1369528 G ADDITIVE 0 020164 0 86
LRPlB 367 6429927 G DOMINANT 0 012980 1 20
LRPlB 368 13408365 A DOMINANT 0 013165 1 20
LRPlB 369 10165154 C DOMINANT 0 015857 1 19
LRPlB 370 13418027 T DOMINANT 0 041922 1 17
FMNL2 395 1155779 C ADDITIVE 0 035232 0 86
FMNL2 396 1370504 G RECESSIVE 0 019686 1 49
FMNL2 397 10193104 A RECESSIVE 0 019152 1 48
PLA2R1 403 3828324 C RECESSIVE 0 028752 0 83
PLA2R1 404 3792189 C DOMINANT 0 001395 1 26
PLA2R1 405 4665138 T RECESSIVE 0 006305 0 80
PLA2R1 406 17241282 C RECESSIVE 0 001488 0 75
PLA2R1 407 17830904 G RECESSIVE 0 007897 0 80
KCNH7 408 9287822 C RECESSIVE 0 030714 0 57
KCNH7 409 9807929 T RECESSIVE 0 016298 0 54
KCNH7 410 4091356 T RECESSIVE 0 012100 0 54
SCN2A 412 353128 G RECESSIVE 0 004556 1 35
SCNlA 416 1824551 C RECESSIVE 0 008412 1 34
SCNlA 418 7607543 C RECESSIVE 0 047154 1 40
SCNlA 419 1461197 A RECESSIVE 0 006218 1 35
SCNlA 420 1824549 G RECESSIVE 0 012012 1 32
SCNlA 421 1381105 G RECESSIVE 0 014105 1 31
SCN9A 423 6756630 A RECESSIVE 0 024679 1 78
SCN9A 424 3924001 T ADDITIVE 0 008161 0 94
SCN9A 425 6747673 T RECESSIVE 0 025748 0 83
CERKL 432 1967351 C RECESSIVE 0 003041 0 74
PDElA 438 16823124 A ADDITIVE 0 001819 1 20
PDElA 439 1430158 C ADDITIVE 0 039304 1 18
PDElA 440 10497597 T ADDITIVE 0 003065 1 25
TMEFF2 442 10497725 C RECESSIVE 0 015237 1 31
TMEFF2 445 4853492 T DOMINANT 0 011412 1 20
TMEFF2 446 10191803 T DOMINANT 0 011724 1 20
ALS2 447 6731583 C DOMINANT 0 034680 1 19
ABI2 448 10197623 T RECESSIVE 0 004368 1 53
PARD3B 453 17626122 C DOMINANT 0 008669 0 82
PARD3B 454 12469145 C DOMINANT 0 019983 0 84
ERBB4 460 10210330 T ADDITIVE 0 025685 1 14
ERBB4 461 4672668 G ADDITIVE 0 032214 1 14
COL4A4 482 13382950 C DOMINANT 0 015788 1 21
DNER 489 6733289 G ADDITIVE 0 031550 1 09
SAG 496 2241874 A RECESSIVE 0 006025 0 75
SAG 497 2241873 C RECESSIVE 0 008788 0 76
CENTG2 498 2292708 T ADDITIVE 0 027226 0 85
CENTG2 500 10929160 T RECESSIVE 0 028919 1 23
CNTN6 502 3902672 G DOMINANT 0 040582 0 85
CNTN6 505 155390 G ADDITIVE 0 009897 0 78
CNTN6 507 155391 C ADDITIVE 0 007737 0 77
CNTN4 518 2063896 A ADDITIVE 0 036403 0 92
CNTN4 519 12494838 G RECESSIVE 0 014353 0 73
CNTN4 523 163574 A ADDITIVE 0 000838 1 36
CNTN4 524 163352 G DOMINANT 0 029184 1 18
ITPRl 525 304041 G ADDITIVE 0 039812 1 06 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
IRAK2 531 696041 A RECESSIVE 0 013603 1 83
SLC6A1 536 1062246 G RECESSIVE 0 012815 0 76
GADLl 538 1494730 C DOMINANT 0 040974 0 86
FBXL2 539 9880596 C ADDITIVE 0 029534 1 12
CLASP2 544 7624319 G RECESSIVE 0 018826 1 31
CLASP2 545 7641020 G RECESSIVE 0 033987 1 21
ARPP-21 546 9811585 G DOMINANT 0 010468 1 20
ARPP-21 547 2278758 A RECESSIVE 0 002872 0 40
ARPP-21 548 2012153 G RECESSIVE 0 000352 0 74
ARPP-21 549 7621692 T RECESSIVE 0 016503 0 48
ARPP-21 550 6550367 C RECESSIVE 0007170 0 80
ARPP-21 551 2305234 A RECESSIVE 0 011295 0 47
STAC 552 17186340 T RECESSIVE 0 037390 2 57
CAMKV 564 2883059 C RECESSIVE 0 003731 0 77
CACNA2D3 581 1467179 A DOMINANT 0 004411 1 24
CACNA2D3 582 1467178 T DOMINANT 0 002068 1 26
CACNA2D3 583 3773580 T DOMINANT 0 002278 1 24
CACNA2D3 584 17054677 A ADDITIVE 0 006768 1 27
CACNA2D3 585 3773569 A DOMINANT 0 001038 1 27
FLNB 588 12488636 C RECESSIVE 0 027938 1 29
FLNB 589 7373012 G RECESSIVE 0 006274 0 71
FHIT 590 639244 C DOMINANT 0 017999 0 84
FHIT 599 2736823 T DOMINANT 0 040257 0 86
CADPS 606 1812677 G ADDITIVE 0 019052 1 12
CADPS 607 1398623 G DOMINANT 0 004679 1 24
CADPS 608 304233 G ADDITIVE 0 014797 1 14
CADPS 609 526163 A ADDITIVE 0 023865 1 10
CADPS 610 9854059 T ADDITIVE 0 043479 1 08
SYNPR 611 6809418 T DOMINANT 0 020076 1 19
PRICKLE2 614 696016 A RECESSIVE 0 004590 2 69
PRICKLE2 615 696017 A RECESSIVE 0 008484 2 44
PRICKLE2 616 704398 G RECESSIVE 0 001129 3 04
PRICKLE2 617 697288 T RECESSIVE 0 001166 3 18
MAGIl 618 2222582 T ADDITIVE 0 024962 0 94
MAGIl 619 9859408 T ADDITIVE 0 014405 1 18
MAGIl 621 264705 A ADDITIVE 0 033436 1 16
FAM19A1 622 17140779 G ADDITIVE 0 025219 0 86
FAM19A1 623 11707519 G DOMINANT 0 013989 1 25
ROBO2 625 9882239 C ADDITIVE 0 004971 1 25
ROBOl 631 4564923 T ADDITIVE 0 027376 1 12
EPHA6 634 4571251 T ADDITIVE 0 039238 1 39
PLCXD2 640 9870533 A RECESSIVE 0 032427 0 59
PLCXD2 641 6807632 T ADDITIVE 0 026521 1 43
KALRN 643 6438827 G RECESSIVE 0 044675 >5
CPNE4 653 9843898 C RECESSIVE 0 029620 1 34
EPHBl 658 9819372 A RECESSIVE 0 019239 0 77
SERPINIl 675 2229697 A DOMINANT 0 047086 1 21
SLC7A14 677 12496334 C ADDITIVE 0 035840 0 85
SLC7A14 678 17289598 G ADDITIVE 0 031139 0 84
TNIK 679 6781167 A ADDITIVE 0 029134 1 18
TNIK 681 6445006 A RECESSIVE 0 022127 0 71
PLDl 688 187229 T DOMINANT 0 049571 0 87
PLDl 689 181715 A DOMINANT 0 034263 0 86 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
PLDl 690 360401 T DOMINANT 0 046942 0 87
PLDl 691 9822322 T DOMINANT 0 015150 1 20
PLDl 692 6781853 C DOMINANT 0 014711 1 20
PLDl 693 9881788 G DOMINANT 0 009027 1 22
PLDl 694 4894707 T DOMINANT 0 013833 1 20
PLDl 695 3774039 T DOMINANT 0 015297 1 20
PLDl 696 2290479 G DOMINANT 0 011224 1 20
PLDl 697 2290480 A ADDITIVE 0 011886 1 16
PLDl 698 7649974 G DOMINANT 0 030944 1 18
PLDl 699 6794454 C ADDITIVE 0 002987 1 22
PLDl 700 6769838 G RECESSIVE 0004606 0 77
PLDl 701 13089252 T RECESSIVE 0 001562 0 75
NLGNl 702 1948162 G DOMINANT 0 018084 0 83
HTR3D 707 7430671 G ADDITIVE 0 025876 1 08
LEPRELl 709 1447948 A RECESSIVE 0 043390 0 70
ILlRAP 715 4624606 A ADDITIVE 0 020796 0 87
SLC2A9 719 7674711 C ADDITIVE 0 017265 1 23
SLC2A9 720 16890905 T ADDITIVE 0 011312 1 24
KCNIP4 735 16869851 C DOMINANT 0 001438 1 30
KCNIP4 736 2114474 T ADDITIVE 0 022544 1 19
KCNIP4 737 7689421 A ADDITIVE 0 023300 1 17
KCNIP4 738 7694208 G ADDITIVE 0 044093 1 17
KCNIP4 739 17623902 A RECESSIVE 0 014218 0 76
UBE2K 744 7697939 G ADDITIVE 0 024586 0 86
LIMCHl 746 17528515 C DOMINANT 0 019809 0 85
LIMCHl 747 13134348 A RECESSIVE 0 041170 1 52
LIMCHl 748 6838113 T ADDITIVE 0 002631 1 15
LIMCHl 749 6447080 G ADDITIVE 0 002666 1 16
LIMCHl 750 6447081 G ADDITIVE 0 002651 1 16
LIMCHl 751 7671360 T ADDITIVE 0 002916 1 14
LIMCHl 752 7674935 C ADDITIVE 0 036953 1 05
LIMCHl 753 4266323 T ADDITIVE 0 002949 1 15
LIMCHl 754 4610372 G ADDITIVE 0 000509 1 21
LIMCHl 755 7683275 G ADDITIVE 0 025159 1 10
LIMCHl 756 4861118 A ADDITIVE 0 001559 1 17
LIMCHl 757 6838196 C ADDITIVE 0 007764 1 14
LIMCHl 758 6447088 C ADDITIVE 0 002957 1 11
LIMCHl 764 2304651 A DOMINANT 0 042200 1 23
LIMCHl 765 7674006 C DOMINANT 0 011887 1 33
LPHN3 766 10008326 A ADDITIVE 0 022975 1 10
LPHN3 767 1397548 A ADDITIVE 0 029744 1 07
SHROOM3 786 3821979 A RECESSIVE 0 000811 0 34
SHROOM3 787 12640170 T RECESSIVE 0 004293 0 72
SHROOM3 788 10013334 T RECESSIVE 0 003336 0 42
SHROOM3 789 11734394 A RECESSIVE 0 007616 0 73
GPRIN3 792 7653897 A DOMINANT 0 018616 0 83
GPRIN3 793 7690986 G DOMINANT 0 033546 0 85
GRID2 798 7668740 T RECESSIVE 0 035881 0 79
GRID2 802 2164314 A RECESSIVE 0 032472 1 35
GRID2 803 13123140 C RECESSIVE 0 005195 1 29
GRID2 804 4693331 C RECESSIVE 0 004350 1 29
GRID2 805 7671794 A RECESSIVE 0 016565 1 33
GRID2 806 11932367 A RECESSIVE 0 018157 1 29 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
GRID2 807 6837139 C DOMINANT 0 030403 0 86
UNC5C 812 4529060 A DOMINANT 0 039558 1 17
UNC5C 813 10856918 G DOMINANT 0 005559 1 22
UNC5C 814 13121737 C DOMINANT 0 001643 1 27
UNC5C 815 13134684 T DOMINANT 0 000460 1 28
UNC5C 816 4103379 G DOMINANT 0 001489 1 28
UNC5C 817 6834411 G DOMINANT 0 001254 1 28
UNC5C 819 13148787 A DOMINANT 0 000128 1 31
PPP3CA 821 2732507 G RECESSIVE 0 033517 0 83
PPP3CA 822 2851048 C RECESSIVE 0 039359 0 83
PPP3CA 823 2851062 G RECESSIVE 0003730 078
PPP3CA 824 2141145 T DOMINANT 0 016846 1 21
PPP3CA 825 1405686 T DOMINANT 0 021504 1 20
COL25A1 835 11098004 T ADDITIVE 0 033780 0 88
COL25A1 836 1563004 G ADDITIVE 0 022397 0 86
ANK2 842 1026975 G DOMINANT 0 024160 1 19
ANK2 846 11942005 G ADDITIVE 0 032895 1 15
ANK2 847 29355 G ADDITIVE 0 021642 1 23
ANK2 848 29319 A ADDITIVE 0 022271 1 21
PRSS12 851 4834679 T DOMINANT 0 009389 1 36
PRSS12 852 1514657 A DOMINANT 0 023109 1 31
PRSS12 853 2892812 C DOMINANT 0 041795 1 27
MAML3 854 6831959 A RECESSIVE 0 003586 1 28
MAML3 857 2604918 A RECESSIVE 0 015325 0 77
MAML3 862 6830177 A DOMINANT 0 030418 1 17
INPP4B 878 13138212 T RECESSIVE 0 018785 0 78
INPP4B 879 1497389 T RECESSIVE 0 010774 0 76
INPP4B 880 881611 G RECESSIVE 0 013646 0 78
INPP4B 881 6820463 T RECESSIVE 0 005003 0 71
INPP4B 882 17715707 G RECESSIVE 0 007255 0 72
POU4F2 883 2174304 A ADDITIVE 0 007872 0 81
POU4F2 884 10010958 T ADDITIVE 0 008797 0 82
POU4F2 885 6821387 A ADDITIVE 0 013700 0 87
POU4F2 886 1104532 A ADDITIVE 0 012404 0 83
POU4F2 887 6835151 A ADDITIVE 0 008051 0 81
POU4F2 888 1394279 C ADDITIVE 0 013437 0 82
DCLK2 891 12374344 T ADDITIVE 0 032894 0 88
CTSO 893 6854827 G DOMINANT 0 034372 1 16
CTSO 894 6832480 T DOMINANT 0 023229 1 18
CTSO 895 6536124 T DOMINANT 0 020871 1 18
FSTL5 897 6824038 T ADDITIVE 0 043324 0 87
FSTL5 898 1023957 C ADDITIVE 0 042148 0 87
FSTL5 899 13121013 A ADDITIVE 0 038681 0 89
FSTL5 900 17459954 T ADDITIVE 0 041918 0 89
FSTL5 901 2872800 A RECESSIVE 0 015723 0 82
FSTL5 902 7699959 A RECESSIVE 0 004355 0 78
FSTL5 903 10031537 T RECESSIVE 0 000485 0 74
FSTL5 904 7375994 A RECESSIVE 0 000021 0 48
FSTL5 905 13113862 A RECESSIVE 0 000106 0 50
FSTL5 906 4301062 C RECESSIVE 0 000016 0 50
FSTL5 907 4574362 C RECESSIVE 0 003856 0 78
FSTL5 908 13101933 T RECESSIVE 0 000176 0 44
FSTL5 909 4691039 T RECESSIVE 0 001018 0 64 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
PALLD 922 6817551 A RECESSIVE 0 003843 0 65
PALLD 923 3733656 T RECESSIVE 0 000789 0 62
PALLD 924 10023864 A RECESSIVE 0 002252 0 63
PALLD 925 1531254 A RECESSIVE 0 008089 0 67
PALLD 926 11733251 A RECESSIVE 0 005134 0 66
PALLD 927 10518037 T RECESSIVE 0 002405 0 63
ODZ3 930 10520541 G DOMINANT 0 016402 0 83
ODZ3 931 4862087 G DOMINANT 0 012773 0 83
ODZ3 932 17329750 C DOMINANT 0 010690 0 82
SEMA5A 944 150633 C RECESSIVE 0 024356 0 78
CTNND2 947 13358276 T RECESSIVE 0000844 0 73
CTNND2 950 27520 C RECESSIVE 0 000179 1 38
CTNND2 951 2530215 C RECESSIVE 0 000031 1 43
DNAH5 959 17203442 G RECESSIVE 0 019214 0 59
MYOlO 963 10045328 A DOMINANT 0 015841 1 75
BASPl 964 2929726 A ADDITIVE 0 004630 1 11
BASPl 965 2956564 G ADDITIVE 0 006795 1 10
BASPl 966 2929710 C ADDITIVE 0 007172 1 09
CDHlO 967 7719252 G DOMINANT 0 008975 0 83
CDHlO 969 1395025 C DOMINANT 0 005616 0 82
C1QTNF3 971 840391 G RECESSIVE 0 031427 0 81
C1QTNF3 972 840381 G DOMINANT 0 012639 1 19
C1QTNF3 973 299620 G DOMINANT 0 003622 0 81
ITGAl 980 13189973 T RECESSIVE 0 037140 0 69
ITGAl 981 4865747 T RECESSIVE 0 006946 0 49
ITGAl 982 17209947 A RECESSIVE 0 010415 0 51
ITGAl 983 10513000 G RECESSIVE 0 026389 0 74
ITGAl 984 10513001 G RECESSIVE 0 041671 0 76
ITGAl 985 6886404 C RECESSIVE 0 023463 0 73
ITGAl 987 16876270 C ADDITIVE 0 010615 1 52
ITGA2 989 1421937 C RECESSIVE 0 043339 0 76
ITGA2 990 3212528 A RECESSIVE 0 004249 3 74
ITGA2 991 3212544 T RECESSIVE 0 004262 3 74
ITGA2 992 3212545 A RECESSIVE 0 004271 3 74
ITGA2 993 2303125 G RECESSIVE 0 001769 4 68
ITGA2 994 12521915 G RECESSIVE 0 025294 0 79
ITGA2 995 3212634 C RECESSIVE 0 005785 4 05
ITGA2 996 2303120 A RECESSIVE 0 001769 4 68
PIK3R1 1013 6881033 G RECESSIVE 0 002456 0 78
FCHO2 1017 6877485 T RECESSIVE 0 028029 0 68
PDE8B 1026 6896093 G DOMINANT 0 033112 0 86
PDE8B 1027 17671243 A DOMINANT 0 026875 0 86
PDE8B 1028 11742730 G DOMINANT 0 043594 0 87
PDE8B 1029 11750661 A DOMINANT 0 027770 0 86
PDE8B 1033 335635 C RECESSIVE 0 007356 0 80
CMYA5 1044 12654905 G DOMINANT 0 010558 1 28
CMYA5 1045 6880680 G DOMINANT 0 011159 1 27
CMYA5 1046 1541813 G DOMINANT 0 004662 1 22
CMYA5 1047 7719553 A DOMINANT 0 000659 1 28
CMYA5 1048 7734306 T DOMINANT 0 000642 1 28
CMYA5 1049 1991483 G DOMINANT 0 003242 1 23
CMYA5 1051 259064 C RECESSIVE 0 002122 2 51
MEF2C 1052 454214 G DOMINANT 0 040096 1 17 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
MEF2C 1053 618298 T DOMINANT 0 034471 1 17
MEF2C 1054 625970 A DOMINANT 0 036148 1 17
MEF2C 1055 681446 A DOMINANT 0 040327 1 17
MEF2C 1056 679232 G DOMINANT 0 042695 1 17
GPR98 1061 27657 T RECESSIVE 0 002882 2 39
GPR98 1062 40205 C RECESSIVE 0 007956 2 11
GPR98 1064 10070074 C RECESSIVE 0 030660 0 80
GPR98 1065 2460177 G DOMINANT 0 021205 1 18
GPR98 1066 2222244 A DOMINANT 0 005160 1 22
GPR98 1068 16869425 C RECESSIVE 0 018577 2 67
GPR98 1069 1852731 C RECESSIVE 0009231 2 75
FBXL17 1070 288180 T RECESSIVE 0 000857 0 48
FBXL17 1071 288173 C RECESSIVE 0 008117 0 57
FBXL17 1072 288172 G RECESSIVE 0 001858 0 50
FBXL17 1073 288146 A RECESSIVE 0 011604 0 65
FBXL17 1074 288144 A RECESSIVE 0 001779 0 50
FBXL17 1075 288139 T RECESSIVE 0 013779 0 66
FBXL17 1076 286753 T RECESSIVE 0 011156 0 65
FBXL17 1077 289227 C RECESSIVE 0 003804 0 53
FBXL17 1078 34428 T RECESSIVE 0 005606 0 56
FBXL17 1079 286769 T RECESSIVE 0 008358 0 61
FBXL17 1080 17385448 T RECESSIVE 0 009082 0 60
PJA2 1081 1862204 C DOMINANT 0 001308 1 27
PJA2 1082 784291 T DOMINANT 0 002544 1 25
PJA2 1083 11738695 C DOMINANT 0 002528 1 25
PJA2 1084 246103 G DOMINANT 0 006431 1 22
PJA2 1085 2963024 C DOMINANT 0 005544 1 22
PJA2 1086 2963046 T DOMINANT 0 008465 1 21
PJA2 1087 2914705 A DOMINANT 0 005301 1 22
PJA2 1088 2963028 C DOMINANT 0 004163 1 24
PJA2 1089 2963029 C DOMINANT 0 005706 1 22
PJA2 1090 2963031 A DOMINANT 0 001640 1 25
PJA2 1091 2963034 A DOMINANT 0 004623 1 22
PJA2 1092 2963013 C DOMINANT 0 005696 1 22
PJA2 1093 12514259 C DOMINANT 0 018478 1 19
ADAMTS19 1098 13158524 A ADDITIVE 0 025048 1 10
ADAMTS19 1099 1017201 T ADDITIVE 0 033907 1 11
ADAMTS19 1100 1972624 T ADDITIVE 0 011041 1 10
ADAMTS19 1101 30710 T ADDITIVE 0 009705 1 09
ADAMTS19 1102 30671 C ADDITIVE 0 005393 1 11
ADAMTS19 1103 25820 A ADDITIVE 0 001422 1 14
ADAMTS19 1104 30669 G ADDITIVE 0 013109 1 11
ADAMTS19 1105 30665 G ADDITIVE 0 002654 1 11
ADAMTS19 1106 30664 G ADDITIVE 0 007485 1 10
ADAMTS19 1107 30651 C ADDITIVE 0 014300 1 10
ADAMTS19 1108 4835975 A RECESSIVE 0 009838 1 30
VDACl 1110 2066944 T ADDITIVE 0 026128 1 21
VDACl 1112 4958172 A DOMINANT 0 022243 1 22
TRPC7 1113 7732110 A ADDITIVE 0 000694 1 17
TRPC7 1114 3734125 G ADDITIVE 0 001041 1 15
TRPC7 1115 10045073 G ADDITIVE 0 001245 1 14
TRPC7 1116 10060256 A RECESSIVE 0 022267 4 85
TRPC7 1117 7727558 G ADDITIVE 0 000761 1 20 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
TRPC7 1118 4976485 A ADDITIVE 0 010429 0 88
TRPC7 1119 10070699 G ADDITIVE 0 013025 0 87
TRPC7 1120 3777145 T ADDITIVE 0 015531 1 16
TRPC7 1121 4976368 A ADDITIVE 0 013223 0 87
TRPC7 1122 3822748 T ADDITIVE 0 013223 0 87
TRPC7 1123 950714 G ADDITIVE 0 015531 1 16
TRPC7 1124 953096 C ADDITIVE 0 011542 0 85
TRPC7 1125 2649691 A ADDITIVE 0 006170 1 16
TRPC7 1126 963590 C ADDITIVE 0 014941 0 83
TRPC7 1127 2673926 T ADDITIVE 0 000043 1 23
TRPC7 1128 2673925 T ADDITIVE 0000050 1 24
TRPC7 1129 2649696 G ADDITIVE 0 000108 1 21
GRIAl 1130 2452801 G ADDITIVE 0 030501 1 09
GRIAl 1132 778825 A RECESSIVE 0 040823 1 24
ODZ2 1135 11134468 G RECESSIVE 0 006592 0 38
ODZ2 1136 7737681 A RECESSIVE 0 023441 0 55
ODZ2 1137 1549152 C RECESSIVE 0 009367 0 48
ODZ2 1139 2546957 C RECESSIVE 0 035689 1 26
ODZ2 1142 1960425 T DOMINANT 0 009361 1 22
ODZ2 1143 10447203 A ADDITIVE 0 005199 1 17
ODZ2 1144 11748886 G RECESSIVE 0 017496 >5
WWCl 1145 11748902 G RECESSIVE 0 004500 >5
WWCl 1148 10038727 A ADDITIVE 0 034029 0 91
WWCl 1149 4576167 C ADDITIVE 0 030218 0 91
KCNIPl 1151 906361 A ADDITIVE 0 000597 0 81
KCNIPl 1152 906359 G ADDITIVE 0 000882 0 81
KCNIPl 1153 906358 A ADDITIVE 0 000903 0 81
KCNIPl 1155 6555913 G RECESSIVE 0 007000 1 29
EXOC2 1159 6597037 A ADDITIVE 0 029028 1 25
EXOC2 1160 9503977 C ADDITIVE 0 038101 1 18
EXOC2 1161 4959273 A ADDITIVE 0 010099 1 23
EXOC2 1163 6940427 A ADDITIVE 0 038202 1 14
EXOC2 1164 1766835 C ADDITIVE 0 020589 1 15
EXOC2 1165 4960092 G ADDITIVE 0 007911 1 18
EXOC2 1166 2013853 G ADDITIVE 0 030903 1 14
EXOC2 1167 1747586 A ADDITIVE 0 016906 1 14
SERPINB6 1169 7751676 T DOMINANT 0 007640 1 32
SERPINB6 1170 1358869 C ADDITIVE 0 013337 1 25
ATXNl 1186 2237166 C RECESSIVE 0 020335 1 21
ATXNl 1187 2237164 G RECESSIVE 0 019501 1 22
ATXNl 1188 2073516 T ADDITIVE 0 034126 1 18
ATXNl 1189 909786 G ADDITIVE 0 027054 1 15
ATXNl 1190 760882 A ADDITIVE 0 002167 1 19
ATXNl 1191 6921608 C DOMINANT 0 005835 1 22
ATXNl 1192 719316 G ADDITIVE 0 000348 1 31
ATXNl 1193 1570487 T DOMINANT 0 005962 1 22
ATXNl 1194 11754887 C DOMINANT 0 013713 1 19
ATXNl 1195 1144695 A ADDITIVE 0 020507 1 19
SLC17A4 1196 4712972 A DOMINANT 0 017749 0 82
SLC17A4 1197 1892252 G DOMINANT 0 010305 0 81
SLC 17Al 1199 1324082 A DOMINANT 0 014663 0 84
SLC 17Al 1200 1165196 C ADDITIVE 0 040499 1 00
SLC 17Al 1201 12182983 A DOMINANT 0 024179 0 85 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
SLC 17Al 1202 6913879 C DOMINANT 0 018099 0 85
SLC 17Al 1203 6905614 C ADDITIVE 0 009533 1 11
SLC 17Al 1204 1324088 T DOMINANT 0 032943 0 84
SLC17A3 1205 1182814 G ADDITIVE 0 003071 0 82
SLC17A3 1206 1165165 A ADDITIVE 0 001545 0 80
SLC17A3 1207 1165162 A ADDITIVE 0 003673 0 83
SLC17A3 1208 1165158 T ADDITIVE 0 003926 0 83
SLC17A3 1209 1165207 A ADDITIVE 0 006364 1 09
SLC17A3 1210 523383 C DOMINANT 0 037395 0 84
SLC17A3 1211 1165205 A ADDITIVE 0 006296 1 09
BTN3A1 1212 4712986 G RECESSIVE 0012582 1 91
BTN3A1 1213 12208788 A RECESSIVE 0 009747 2 04
BTN3A1 1215 10807008 C ADDITIVE 0 034023 1 15
BTN3A1 1216 17610161 A RECESSIVE 0 038234 2 07
MSH5 1218 707937 C RECESSIVE 0 019603 0 65
LRFN2 1219 846505 T DOMINANT 0 035993 0 85
PARC 1222 6938026 G DOMINANT 0 034030 0 85
TRDN 1240 1890467 C RECESSIVE 0 023215 0 49
TRDN 1241 9372744 G RECESSIVE 0 012248 0 48
TRDN 1242 1431291 G RECESSIVE 0 010469 0 45
TRDN 1243 7765003 A RECESSIVE 0 015667 0 47
TRDN 1248 6931183 A DOMINANT 0 019725 1 21
NKAIN2 1261 6906607 A ADDITIVE 0 042731 1 14
EYA4 1262 2027210 A DOMINANT 0 004507 1 25
EYA4 1263 17301622 G DOMINANT 0 000543 1 32
EYA4 1264 7454561 G DOMINANT 0 004285 1 25
EYA4 1265 12524250 A DOMINANT 0 004121 1 25
PDE7B 1269 9389370 G ADDITIVE 0 011134 0 88
PDE7B 1270 6931460 ADDITIVE 0 031841 0 58
PLAGLl 1271 11155338 T DOMINANT 0 005488 1 22
STXI l 1273 6935462 A ADDITIVE 0 006308 1 39
UTRN 1274 6906465 G ADDITIVE 0 002849 1 23
UTRN 1275 9373430 A DOMINANT 0 039224 1 16
PARK2 1283 2064419 T RECESSIVE 0 027128 1 20
PARK2 1284 9364602 A RECESSIVE 0 020631 1 25
PACRG 1285 2763986 T RECESSIVE 0 000018 0 68
PACRG 1286 761625 A RECESSIVE 0 000138 0 71
PDElOA 1294 481701 C RECESSIVE 0 015732 2 29
NXPHl 1298 10085720 T DOMINANT 0 032211 0 86
NXPHl 1299 4455737 G DOMINANT 0 041509 0 87
NXPHl 1300 7456267 A DOMINANT 0 039360 0 86
NXPHl 1301 2349499 C DOMINANT 0 020655 0 85
NXPHl 1302 10257265 C DOMINANT 0 034891 0 86
NXPHl 1303 970526 G DOMINANT 0 034780 0 86
NXPHl 1304 970527 C DOMINANT 0 011590 0 83
NXPHl 1305 3779355 A ADDITIVE 0 029694 0 84
DGKB 1307 17167942 A DOMINANT 0 003092 1 24
DGKB 1308 6969690 G DOMINANT 0 007030 1 22
DGKB 1311 12699645 C ADDITIVE 0 011602 0 91
DGKB 1312 2049447 C ADDITIVE 0 007679 0 91
DGKB 1314 1981680 T RECESSIVE 0 017378 0 73
DGKB 1316 10277367 C RECESSIVE 0 033853 0 76
SNX13 1318 4543441 A ADDITIVE 0 027678 0 98 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
SNX13 1319 4544985 C ADDITIVE 0 033053 0 97
SNX13 1320 6970593 A ADDITIVE 0 030068 0 97
STK31 1323 13244337 G RECESSIVE 0 018236 1 55
CREB5 1330 2237361 C DOMINANT 0 043164 1 16
PDElC 1335 7791180 G DOMINANT 0 034376 1 16
PDElC 1336 10951305 T DOMINANT 0 049127 1 15
PDElC 1337 4723103 T DOMINANT 0 018831 1 18
PDElC 1338 3801350 T DOMINANT 0 001524 1 25
PDElC 1339 12701142 G DOMINANT 0 001375 1 25
BMPER 1340 1365883 T RECESSIVE 0 029436 0 71
BMPER 1341 13244436 A RECESSIVE 0043482 0 73
BMPER 1342 2110856 C RECESSIVE 0 033499 0 72
BMPER 1343 12672492 A RECESSIVE 0 033499 0 72
EEPDl 1345 2726113 T RECESSIVE 0 011127 1 66
VPS41 1349 2240355 A ADDITIVE 0 029219 1 13
VPS41 1350 10262154 T RECESSIVE 0 048068 0 82
VPS41 1353 10279367 A RECESSIVE 0 004238 0 71
VPS41 1360 4723793 G DOMINANT 0 047847 1 15
VPS41 1361 17680408 A RECESSIVE 0 006066 0 72
VPS41 1366 10951578 C RECESSIVE 0 009675 0 77
VPS41 1367 10255290 A RECESSIVE 0 035368 0 77
VPS41 1368 10255854 T RECESSIVE 0 036509 0 77
ABCA13 1373 17661073 C ADDITIVE 0 009969 1 26
ABCA13 1374 17132158 G ADDITIVE 0 010967 1 25
ABCA13 1377 17132163 T ADDITIVE 0 031656 1 16
ABCA13 1378 12113721 A ADDITIVE 0 028846 1 20
ABCA13 1379 2049514 T ADDITIVE 0 030707 1 17
ABCA13 1380 6583461 A DOMINANT 0 010862 0 82
ABCA13 1381 2049513 A ADDITIVE 0 030583 1 19
ABCA13 1382 11977113 A ADDITIVE 0 039820 1 15
ABCA13 1383 7802110 G ADDITIVE 0 024160 0 86
ABCA13 1384 7778020 A DOMINANT 0 004982 0 77
ABCA13 1385 4072503 G ADDITIVE 0 026352 0 81
ABCA13 1386 1317162 C ADDITIVE 0 027645 0 80
ABCA13 1387 12113920 T ADDITIVE 0 026352 0 81
ABCA13 1388 1918596 T ADDITIVE 0 035153 0 81
ABCA13 1389 1918588 A ADDITIVE 0 022262 0 81
ABCA13 1390 4144067 T ADDITIVE 0 046224 0 82
ABCA13 1391 7802150 A ADDITIVE 0 029891 0 79
ABCA13 1392 6965361 T ADDITIVE 0 015271 0 76
GRBlO 1393 2244372 G DOMINANT 0 004744 0 81
GRBlO 1394 2244353 T DOMINANT 0 004277 0 80
GRBlO 1395 2244351 G DOMINANT 0 004587 0 81
GRBlO 1396 2244347 C DOMINANT 0 015688 0 84
GRBlO 1397 2237477 T DOMINANT 0 005297 0 82
GRBlO 1398 2282931 T DOMINANT 0 013027 0 83
WBSCR17 1418 1001835 A ADDITIVE 0 009100 1 20
CALNl 1431 1914386 T RECESSIVE 0 026272 3 24
GTF2IRD1 1437 6953789 A DOMINANT 0 016620 1 19
MAGI2 1438 1860538 G DOMINANT 0 013668 1 21
MAGI2 1439 2075013 C DOMINANT 0 011336 1 21
MAGI2 1440 2075014 T RECESSIVE 0 022202 0 80
MAGI2 1445 7778707 G DOMINANT 0 042255 0 85 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
MAGI2 1446 1918935 A DOMINANT 0 019166 0 83
GRM3 1459 10239714 C ADDITIVE 0 044664 1 14
GRM3 1460 10280549 A ADDITIVE 0 035220 1 16
GRM3 1461 2299219 C ADDITIVE 0 035472 1 16
GRM3 1462 7804907 T ADDITIVE 0 031061 1 19
ADAM22 1463 1201841 G ADDITIVE 0 041241 0 78
ADAM22 1464 7799148 C RECESSIVE 0 034290 1 21
PPP1R9A 1475 2285694 A RECESSIVE 0 044675 >5
CUXl 1484 1725604 C ADDITIVE 0 000141 1 26
CUXl 1485 2257738 A DOMINANT 0 000605 1 27
NRCAM 1487 409797 C DOMINANT 0011478 1 20
NRCAM 1488 441468 C RECESSIVE 0 044038 0 60
NRCAM 1490 2284280 A DOMINANT 0 005295 1 22
NRCAM 1491 404287 C DOMINANT 0 001819 1 25
NRCAM 1492 369800 G DOMINANT 0 003476 1 24
NRCAM 1493 425013 C DOMINANT 0 003512 1 23
NRCAM 1494 2023503 G RECESSIVE 0 021159 0 79
KCND2 1498 802372 C DOMINANT 0 009167 1 29
KCND2 1499 10488302 A DOMINANT 0 013025 1 30
CADPS2 1501 10267604 G DOMINANT 0 002823 0 81
CADPS2 1502 1154609 C DOMINANT 0 003229 0 81
CADPS2 1503 916982 G DOMINANT 0 028635 0 85
DGKI 1538 834054 T ADDITIVE 0 022104 0 45
CREB3L2 1541 1020961 T DOMINANT 0 005991 0 82
CREB3L2 1542 9757 G DOMINANT 0 007309 0 82
CREB3L2 1543 13232124 T RECESSIVE 0 003506 0 74
CREB3L2 1544 11972734 A RECESSIVE 0 004367 0 74
TBXASl 1545 2267705 C ADDITIVE 0 037511 1 14
TBXASl 1546 2269997 T ADDITIVE 0 011752 1 30
PTPRN2 1585 4909289 A ADDITIVE 0 047024 1 12
CSMDl 1587 688894 G DOMINANT 0 028176 0 85
MCPHl 1597 12546890 G RECESSIVE 0 028336 1 85
MCPHl 1601 11989215 G DOMINANT 0 034417 0 86
MCPHl 1602 1375668 G ADDITIVE 0 002813 0 81
MCPHl 1603 4455855 A ADDITIVE 0 007836 0 81
ANGPT2 1609 7825811 T ADDITIVE 0 009640 0 78
DLCl 1610 7824944 C ADDITIVE 0 041485 0 89
SLC7A2 1619 2720590 T RECESSIVE 0 020977 1 38
PSD3 1621 13259407 C RECESSIVE 0 025522 1 24
PSD3 1623 1386688 C DOMINANT 0 000444 1 31
PSD3 1624 7837572 T DOMINANT 0 000813 1 29
ATP6V1B2 1626 1106634 A ADDITIVE 0 000158 1 30
PEBP4 1637 2466195 C RECESSIVE 0 032095 1 40
SLC25A37 1639 3736032 A RECESSIVE 0 006306 6 08
SLC25A37 1640 10104250 T RECESSIVE 0 011315 8 91
SLC25A37 1641 10092233 G RECESSIVE 0 007312 9 72
UNC5D 1648 4739429 G ADDITIVE 0 035910 1 11
UNC5D 1649 2843933 T RECESSIVE 0 025249 1 21
SFRPl 1650 13276051 G RECESSIVE 0 011594 0 71
SFRPl 1652 7843510 G RECESSIVE 0 039906 0 83
PRKDC 1653 7841661 G DOMINANT 0 032346 1 28
SNTGl 1655 1486258 G RECESSIVE 0 015905 1 47
SNTGl 1658 2385554 T RECESSIVE 0 022557 1 44 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
SNTGl 1666 900958 T ADDITIVE 0 022660 1 10
SNTGl 1669 13260265 C ADDITIVE 0 044904 0 87
SNTGl 1670 12548940 C RECESSIVE 0 033654 0 70
TOX 1679 6471757 G RECESSIVE 0 009022 1 28
TOX 1680 4738738 C DOMINANT 0 034348 0 86
NKAIN3 1684 1993125 C ADDITIVE 0 035728 0 87
NKAIN3 1686 11787352 A ADDITIVE 0 047193 0 89
NKAIN3 1687 9298070 G RECESSIVE 0 031088 1 22
NKAIN3 1688 10100456 T RECESSIVE 0 018065 1 33
DEPDC2 1689 1434763 C RECESSIVE 0 004902 0 75
DEPDC2 1690 1434764 A RECESSIVE 0014905 079
DEPDC2 1691 1014663 C RECESSIVE 0 043302 0 82
KCNB2 1692 13251896 G DOMINANT 0 034554 0 85
MMP 16 1709 10106275 A RECESSIVE 0 007120 0 79
MMP 16 1712 10504845 T DOMINANT 0 026150 1 18
GRHL2 1716 6992430 G DOMINANT 0 008103 1 22
GRHL2 1717 1357984 A DOMINANT 0 006790 1 22
GRHL2 1718 13275653 C DOMINANT 0 011414 1 21
GRHL2 1719 4734567 A RECESSIVE 0 001421 1 56
GRHL2 1720 4734038 T RECESSIVE 0 002126 1 36
GRHL2 1721 4734573 G RECESSIVE 0 004418 1 38
GRHL2 1722 3735715 G RECESSIVE 0 000255 1 43
GRHL2 1723 11994917 T RECESSIVE 0 000743 1 40
NCALD 1724 1131862 G ADDITIVE 0 027108 1 14
NCALD 1725 4734584 A RECESSIVE 0 004912 1 37
NCALD 1726 12681368 C RECESSIVE 0 001008 1 38
NCALD 1727 2226401 G RECESSIVE 0 023428 1 43
NCALD 1728 6468791 C RECESSIVE 0 001319 1 37
NCALD 1729 7829690 T ADDITIVE 0 004749 1 07
ZFPM2 1730 7816536 G DOMINANT 0 009659 0 83
ZFPM2 1731 10464844 G DOMINANT 0 010500 0 83
ZFPM2 1732 1383591 C DOMINANT 0 008786 0 83
ZFPM2 1733 11988529 C DOMINANT 0 008141 0 83
ZFPM2 1734 1383592 A DOMINANT 0 008265 0 83
ZFPM2 1735 16873003 C DOMINANT 0 003674 0 81
ZFPM2 1736 4734863 G DOMINANT 0 006262 0 82
ZFPM2 1737 7823133 T DOMINANT 0 006442 0 82
ZFPM2 1738 6992053 A DOMINANT 0 008970 0 83
ZFPM2 1739 1481026 T DOMINANT 0 008876 0 83
ZFPM2 1740 6981187 G DOMINANT 0 008594 0 83
ZFPM2 1741 7007352 G RECESSIVE 0 020585 0 40
CSMD3 1763 4876502 C DOMINANT 0 049394 1 17
SAMD 12 1766 4876815 G DOMINANT 0 004186 0 81
SAMD 12 1767 13263320 A DOMINANT 0 016429 1 20
FERl L6 1771 4355755 T RECESSIVE 0 009814 1 44
FERl L6 1772 16893054 T RECESSIVE 0 006023 1 48
FERl L6 1773 4870877 T ADDITIVE 0 001558 1 08
FERl L6 1774 4871437 C ADDITIVE 0 027223 1 06
FERl L6 1775 7838453 A ADDITIVE 0 034326 1 07
FERl L6 1776 7842762 C ADDITIVE 0 043442 1 03
MTSSl 1781 3901290 C ADDITIVE 0 017417 1 24
MTSSl 1782 10956198 G DOMINANT 0 017463 1 20
COL22A1 1789 6577934 A DOMINANT 0 005571 1 26 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
COL22A1 1790 7017524 A DOMINANT 0 010750 1 24
COL22A1 1792 7818881 C RECESSIVE 0 007364 0 80
COL22A1 1793 10090299 C RECESSIVE 0 010095 0 81
COL22A1 1794 7838300 C RECESSIVE 0 010325 0 81
COL22A1 1795 7838450 C RECESSIVE 0 010221 0 81
SMARCA2 1803 13288443 G ADDITIVE 0 022779 0 83
SMARCA2 1804 7035991 T ADDITIVE 0 024016 0 84
SMARCA2 1805 3829070 C RECESSIVE 0 028265 2 14
SMARCA2 1808 10738600 T DOMINANT 0 004771 0 81
KIAA1797 1821 7021708 G RECESSIVE 0 038416 1 24
KIAA1797 1823 10511687 G RECESSIVE 0019549 1 29
IFT74 1830 7035755 G DOMINANT 0 015964 1 22
IFT74 1831 7039400 A DOMINANT 0 017917 1 22
IFT74 1834 10812518 T RECESSIVE 0 019272 1 58
IFT74 1835 17694631 C DOMINANT 0 013654 1 24
IFT74 1836 2095405 C DOMINANT 0 032978 1 17
TEK 1837 1591355 G DOMINANT 0 037968 1 17
PIP5K1B 1839 7861710 C RECESSIVE 0 026362 1 27
PIP5K1B 1840 4237268 G RECESSIVE 0 049598 1 23
TMCl 1857 7044235 A DOMINANT 0 041657 0 85
TMCl 1858 7044241 A DOMINANT 0 028447 0 84
TMCl 1859 7855743 G DOMINANT 0 021116 0 83
TMCl 1860 4373587 T DOMINANT 0 030872 0 85
TMCl 1861 13285932 T DOMINANT 0 008895 1 21
TMCl 1862 969205 A RECESSIVE 0 010827 0 59
TMCl 1863 1663740 T RECESSIVE 0 008185 0 58
TMCl 1864 1796991 G RECESSIVE 0 008851 0 58
TMCl 1865 2256491 C RECESSIVE 0 008288 0 58
TMCl 1866 2589609 T RECESSIVE 0 006119 0 57
TMCl 1867 7860172 A RECESSIVE 0 014842 2 04
TMCl 1868 12000987 T DOMINANT 0 045381 0 78
GNAQ 1874 10869954 A DOMINANT 0 015380 1 21
GNAQ 1875 10869955 A RECESSIVE 0 003435 0 79
GNAQ 1876 12551478 C DOMINANT 0 014351 1 19
GNAQ 1877 6560612 T DOMINANT 0 041744 1 15
GNAQ 1878 10869960 T DOMINANT 0 047659 1 15
GNAQ 1882 10781482 T RECESSIVE 0 042270 1 41
SHC3 1902 1125467 C ADDITIVE 0 033919 1 15
SHC3 1903 9410299 C ADDITIVE 0 007328 0 86
SHC3 1904 7868553 T RECESSIVE 0 046564 1 24
DIRAS2 1905 690474 G ADDITIVE 0 022096 1 11
DIRAS2 1907 7028171 A RECESSIVE 0 044570 0 77
NFIL3 1909 7038686 A DOMINANT 0 016229 1 19
GABBR2 1911 16914425 T ADDITIVE 0 045254 1 44
GRIN3A 1915 9299345 T ADDITIVE 0 028101 0 84
GRIN3A 1921 1853447 T ADDITIVE 0 026043 0 87
GRIN3A 1923 4742823 A DOMINANT 0 028114 0 84
GRIN3A 1925 2506362 C ADDITIVE 0 015761 0 92
FKTN 1929 2768290 G ADDITIVE 0 031902 0 87
FKTN 1930 2768294 G DOMINANT 0 046703 0 87
FKTN 1931 2518106 A ADDITIVE 0 048622 0 87
PALM2 1932 1358912 A ADDITIVE 0 020090 1 06
PALM2 1933 10739282 A RECESSIVE 0 025066 1 24 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
PALM2 1934 4978848 G ADDITIVE 0 024272 1 07
PALM2 1935 2025878 A RECESSIVE 0 036827 1 21
PALM2 1936 4246875 A RECESSIVE 0 026623 1 22
MUSK 1940 3001115 T ADDITIVE 0 026372 1 13
MUSK 1943 1184926 T ADDITIVE 0 042279 0 85
DFNB31 1948 2274160 T RECESSIVE 0 005390 1 51
DFNB31 1949 731421 T RECESSIVE 0 030474 0 71
DFNB31 1950 10817607 G RECESSIVE 0 025753 0 70
DFNB31 1951 7875262 T RECESSIVE 0 033082 0 71
DFNB31 1952 10081699 G RECESSIVE 0 013955 1 43
DFNB31 1953 10739411 G ADDITIVE 0026062 092
DFNB31 1954 10982213 A RECESSIVE 0 020370 0 70
DFNB31 1955 1408527 C RECESSIVE 0 015767 1 41
PAPPA 1963 10759836 T RECESSIVE 0 005237 0 72
PAPPA 1964 13285093 C DOMINANT 0 029229 1 17
ASTN2 1976 10759876 A DOMINANT 0 003467 1 24
ASTN2 1977 3849144 G DOMINANT 0 004674 1 23
ASTN2 1978 12350890 A DOMINANT 0 013281 1 25
ASTN2 1979 10817968 A ADDITIVE 0 026212 1 24
ASTN2 1983 1928998 G ADDITIVE 0 038135 1 19
ASTN2 1984 10983518 C RECESSIVE 0 016127 0 68
ASTN2 1985 13298697 A RECESSIVE 0 047152 0 72
RAB14 1992 2302498 A RECESSIVE 0 015476 0 80
GSN 1993 12376078 A DOMINANT 0 003682 1 47
GSN 1994 10985207 G DOMINANT 0 005065 1 46
GSN 1996 767770 T DOMINANT 0 000187 1 69
TTLLI l 1998 10818618 C RECESSIVE 0 039629 0 73
NEK6 2017 749355 A ADDITIVE 0 030480 1 23
TSCl 2031 7874234 T ADDITIVE 0 011367 0 84
VAV2 2032 10993790 T DOMINANT 0 003427 1 26
VAV2 2033 7855899 C RECESSIVE 0 003355 1 68
VAV2 2034 3780737 T RECESSIVE 0 004754 0 47
VAV2 2035 7038256 T RECESSIVE 0 025434 0 51
VAV2 2036 7025939 C RECESSIVE 0 023272 0 49
NOTCHl 2041 11145770 T RECESSIVE 0 002492 0 74
CACNAlB 2042 2168526 T RECESSIVE 0 024854 1 69
CACNAlB 2043 10780196 A RECESSIVE 0 027471 1 69
CACNAlB 2044 7028989 T RECESSIVE 0 017789 1 75
CACNAlB 2045 12005780 C RECESSIVE 0 012863 1 84
CACNB2 2051 2357928 G ADDITIVE 0 012595 0 91
CACNB2 2053 11014484 C DOMINANT 0 024884 0 85
CACNB2 2054 12416052 C RECESSIVE 0 004716 1 31
CACNB2 2055 12257556 G RECESSIVE 0 002839 1 29
CACNB2 2056 4748474 G RECESSIVE 0 007791 1 26
CACNB2 2057 4237348 C DOMINANT 0 041066 0 85
CACNB2 2058 12764916 T DOMINANT 0 031006 0 86
CACNB2 2059 4628581 C DOMINANT 0 023338 0 84
CACNB2 2060 7910506 G DOMINANT 0 014403 1 19
CACNB2 2062 10828859 C RECESSIVE 0 008707 1 28
ARMC3 2063 10828371 T RECESSIVE 0 021711 1 49
ARMC3 2064 17440393 A RECESSIVE 0 006511 1 67
ARMC3 2065 7084413 C RECESSIVE 0 018948 1 40
MYO3A 2068 1339814 T RECESSIVE 0 022947 1 28 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
MYO3A 2069 1416860 T RECESSIVE 0 025959 1 28
MYO3A 2070 7899567 A RECESSIVE 0 029350 1 27
MYO3A 2071 11014934 G RECESSIVE 0 017798 1 30
MYO3A 2072 12246202 C RECESSIVE 0 042753 1 27
MYO3A 2073 12263990 G RECESSIVE 0 046502 1 25
MYO3A 2074 7095559 A RECESSIVE 0 024761 1 28
MYO3A 2075 12258453 T RECESSIVE 0 026415 1 28
PRKGl 2078 6479874 T RECESSIVE 0 014762 1 91
PRKGl 2084 293244 A ADDITIVE 0 020720 1 21
PCDHl 5 2090 2610922 A RECESSIVE 0 018308 3 44
PCDHl 5 2092 4465289 C RECESSIVE 0017216 1 69
PCDHl 5 2093 1020203 G DOMINANT 0 003999 0 79
PCDHl 5 2094 2384413 T DOMINANT 0 003476 0 79
PCDHl 5 2095 7477283 T DOMINANT 0 005120 0 80
PCDHl 5 2096 10740578 C DOMINANT 0 001890 0 78
PCDHl 5 2097 7919293 G DOMINANT 0 006251 0 80
PCDHl 5 2098 2384419 G DOMINANT 0 004336 0 79
PCDHl 5 2099 2891506 T DOMINANT 0 003985 0 79
PCDHl 5 2100 997066 A DOMINANT 0 015385 0 84
PCDHl 5 2101 857374 C DOMINANT 0 022635 0 85
PCDHl 5 2102 1342281 T DOMINANT 0 018736 0 85
PCDHl 5 2103 857395 C DOMINANT 0 017903 0 85
PCDHl 5 2104 11004267 A DOMINANT 0 009219 0 83
PCDHl 5 2105 11004270 T DOMINANT 0 029388 0 86
PCDHl 5 2106 7069188 C RECESSIVE 0 014258 1 46
PCDHl 5 2108 7474541 C RECESSIVE 0 016106 1 51
PCDHl 5 2109 3902590 G RECESSIVE 0 012226 1 54
ANK3 2115 7907721 A RECESSIVE 0 033308 0 79
ANK3 2116 4948254 A RECESSIVE 0 023395 1 27
JMJDlC 2124 10995505 A RECESSIVE 0 026757 1 44
JMJDlC 2126 10761747 G RECESSIVE 0 016333 1 50
CTNNA3 2128 10509256 A RECESSIVE 0 041901 0 68
CTNNA3 2129 3911783 A ADDITIVE 0 040526 1 09
CTNNA3 2140 7893145 C DOMINANT 0 000786 0 79
CTNNA3 2141 7922094 C DOMINANT 0 007206 1 21
CTNNA3 2142 7907580 T DOMINANT 0 008743 1 21
CTNNA3 2143 10997420 C RECESSIVE 0 014850 1 23
CTNNA3 2144 1925605 T RECESSIVE 0 049015 1 19
CTNNA3 2154 2448547 G DOMINANT 0 022824 0 75
CTNNA3 2155 2616687 G DOMINANT 0 011127 0 79
KCNMAl 2165 2569360 C RECESSIVE 0 027821 1 22
KCNMAl 2166 2569361 C RECESSIVE 0 021437 1 23
KCNMAl 2167 4980107 C RECESSIVE 0 041453 1 20
KCNMAl 2168 10762731 G RECESSIVE 0 024986 1 22
KCNMAl 2169 4980113 C RECESSIVE 0 032402 1 21
KCNMAl 2170 10762732 T RECESSIVE 0 034144 1 20
KCNMAl 2173 3781158 T DOMINANT 0 019022 0 85
KCNMAl 2174 2131216 T DOMINANT 0 019030 0 84
KCNMAl 2175 10509378 A DOMINANT 0 007199 0 83
KCNMAl 2176 12219498 T DOMINANT 0 015542 0 84
NRG3 2184 1124744 A DOMINANT 0 002015 1 29
NRG3 2186 11595839 G ADDITIVE 0 025402 1 27
NRG3 2187 474496 G DOMINANT 0 005874 1 21 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
NRG3 2188 495978 A DOMINANT 0 006781 1 21
SORBSl 2190 11188287 G RECESSIVE 0 021191 1 53
SORBSl 2193 7080545 C ADDITIVE 0 043587 0 86
SORBSl 2194 11188327 C DOMINANT 0 007510 1 21
PIK3AP1 2196 7448 G RECESSIVE 0 005100 1 37
PIK3AP1 2197 1983831 A RECESSIVE 0 006490 1 34
PIK3AP1 2198 912480 G RECESSIVE 0 002642 1 44
PIK3AP1 2199 7914154 C RECESSIVE 0 010974 1 33
SLITl 2201 2817688 G DOMINANT 0 007821 1 21
SLITl 2202 2636815 A DOMINANT 0 006388 1 23
SLITl 2203 2817666 A DOMINANT 0004951 0 81
SORCS3 2209 1387827 A ADDITIVE 0 021458 1 03
SORCS3 2210 973190 T ADDITIVE 0 016671 1 09
SORCS3 2211 2496029 A ADDITIVE 0 021204 1 09
SORCS3 2213 2451492 T DOMINANT 0 049209 0 87
SORCS3 2214 2451498 C DOMINANT 0 041030 0 86
SORCS3 2215 2177744 C DOMINANT 0 022268 1 18
SORCS3 2217 7072425 A DOMINANT 0 037455 1 22
VTIlA 2218 10509963 A RECESSIVE 0 045868 0 78
ATRNLl 2220 1264764 C ADDITIVE 0 024878 0 87
ATRNLl 2223 12767028 C DOMINANT 0 017014 1 20
ATRNLl 2224 7922670 G DOMINANT 0 022609 1 19
ATRNLl 2225 11197255 G DOMINANT 0 019749 1 20
ATRNLl 2228 11197294 T DOMINANT 0 027662 1 19
ATRNLl 2230 2804192 A ADDITIVE 0 029904 1 14
ATRNLl 2231 7095798 T DOMINANT 0 034822 1 18
ATRNLl 2232 2804204 T ADDITIVE 0 031879 1 15
ATRNLl 2233 2804207 C ADDITIVE 0 032750 0 90
ATRNLl 2234 1590734 G ADDITIVE 0 026976 1 17
ATRNLl 2235 1590733 G ADDITIVE 0 025347 1 18
ATRNLl 2236 10787584 T ADDITIVE 0 008453 1 20
ATRNLl 2237 11197337 T ADDITIVE 0 027025 1 18
ATRNLl 2238 2804249 G ADDITIVE 0 026115 0 91
ATRNLl 2239 2420098 G ADDITIVE 0 029450 0 90
HSPA12A 2241 12777585 G RECESSIVE 0 015733 1 38
NANOSl 2244 9325559 T ADDITIVE 0 019015 0 88
ATEl 2251 7086628 G ADDITIVE 0 038812 0 92
ATEl 2252 1693682 A RECESSIVE 0 028622 0 82
ATEl 2256 10510102 G RECESSIVE 0 020025 1 61
EBF3 2265 10829666 A ADDITIVE 0 008326 0 83
CENDl 2269 11246327 T DOMINANT 0 016652 0 82
HCCA2 2270 11029977 T ADDITIVE 0 026816 1 12
HCCA2 2271 1554855 C ADDITIVE 0 006336 1 15
HCCA2 2272 4881740 T ADDITIVE 0 003597 1 17
HCCA2 2273 7396009 T ADDITIVE 0 002743 1 18
DUSP8 2274 1108991 G ADDITIVE 0 002643 1 18
DUSP8 2275 6578475 C ADDITIVE 0 000799 1 29
DUSP8 2276 6578476 G ADDITIVE 0 003429 1 15
DUSP8 2277 10734456 C DOMINANT 0 026547 1 17
STIMl 2278 7924984 A DOMINANT 0 024698 1 17
TRIM21 2279 10835979 G ADDITIVE 0 009525 1 32
GALNTL4 2281 7120631 T ADDITIVE 0 032773 0 94
GALNTL4 2283 901553 C RECESSIVE 0 047890 1 23 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
MICAL2 2287 11022241 A RECESSIVE 0045635 1 20
MICAL2 2288 10437600 A RECESSIVE 0 011587 0 62
MICAL2 2290 12807026 C ADDITIVE 0 013182 0 86
SPONl 2291 2697852 G DOMINANT 0 049783 0 87
SPONl 2292 1969542 C DOMINANT 0 007499 0 83
SPONl 2293 7116230 A ADDITIVE 0 020903 0 88
SPONl 2294 11023051 C DOMINANT 0 031882 0 85
SPONl 2295 1528668 C ADDITIVE 0 032120 0 89
SPONl 2296 11601500 C ADDITIVE 0 024398 0 88
SPONl 2297 10832163 T ADDITIVE 0 018945 0 88
SPONl 2298 11023054 A ADDITIVE 0 023861 0 88
SPONl 2299 10832165 A ADDITIVE 0 025929 0 89
SPONl 2300 11023055 G ADDITIVE 0 024777 0 89
SPONl 2301 7112850 A ADDITIVE 0 009613 0 86
SPONl 2302 10766134 G ADDITIVE 0 018251 0 92
SPONl 2303 12283632 A DOMINANT 0 024620 0 85
SPONl 2304 11023067 G DOMINANT 0 013934 0 84
SPONl 2305 882667 G DOMINANT 0 010949 1 22
SPONl 2306 1528641 A DOMINANT 0 014322 1 21
SPONl 2307 7116296 T DOMINANT 0 027466 1 19
SPONl 2308 11023088 T DOMINANT 0025094 1 19
SPONl 2309 1864658 C DOMINANT 0 047272 0 87
SPONl 2310 4757244 A DOMINANT 0 049295 0 87
SPONl 2313 4756787 C RECESSIVE 0 010483 0 45
USHlC 2314 4756895 T RECESSIVE 0 030914 1 22
USHlC 2315 1055581 G DOMINANT 0 002232 0 78
USHlC 2316 2072230 T RECESSIVE 0 002686 1 34
USHlC 2317 16934376 C RECESSIVE 0 044775 0 23
OTOG 2318 10832822 A ADDITIVE 0 011682 0 80
PTPN5 2329 4757718 G ADDITIVE 0 030868 1 13
NAV2 2330 10500860 C ADDITIVE 0 005524 1 18
NAV2 2331 1559665 G RECESSIVE 0 026395 1 20
NAV2 2332 1559666 C ADDITIVE 0 023490 1 09
NAV2 2334 4757841 G ADDITIVE 0 019763 0 92
NAV2 2335 10766590 A ADDITIVE 0 020748 1 06
NAV2 2336 10734284 T ADDITIVE 0 012674 1 10
NAV2 2337 10741800 C ADDITIVE 0 021872 1 08
NAV2 2338 11025246 C RECESSIVE 0 007488 1 31
NAV2 2340 2255677 A DOMINANT 0 019534 1 19
NAV2 2341 10732471 T ADDITIVE 0 023843 0 89
NAV2 2342 1470254 T ADDITIVE 0039435 0 89
NAV2 2343 1470253 C ADDITIVE 0 041924 0 88
NAV2 2344 1470251 A ADDITIVE 0 025843 0 86
SLC6A5 2345 1443548 T DOMINANT 0 024295 1 18
SLC6A5 2346 4922798 G RECESSIVE 0 011680 1 37
SLC6A5 2347 10766703 A RECESSIVE 0 011211 1 37
SLC6A5 2348 10741848 T RECESSIVE 0 038041 1 21
SLC6A5 2349 10741849 G RECESSIVE 0 043513 1 20
SLC6A5 2350 4454712 T RECESSIVE 0 004974 1 32
SLC6A5 2351 2276431 A RECESSIVE 0 009040 1 32
KCNA4 2353 11030913 C DOMINANT 0 023874 0 84
KCNA4 2354 524373 G ADDITIVE 0 009368 1 26
KCNA4 2355 10835607 A DOMINANT 0 021842 0 84 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
KCNA4 2356 536830 C ADDITIVE 0 010851 1 23
LRRC4C 2357 2953310 C ADDITIVE 0 036554 1 09
LRRC4C 2358 7943560 G ADDITIVE 0 012296 1 17
LRRC4C 2359 10160235 T RECESSIVE 0 040393 1 26
LRRC4C 2360 4237677 C DOMINANT 0 031520 1 17
LRRC4C 2361 4237678 G DOMINANT 0 000965 1 29
LRRC4C 2372 1377106 T DOMINANT 0 042343 0 83
LRRC4C 2375 10837391 G ADDITIVE 0 009622 1 14
PHACS 2379 7950395 T DOMINANT 0 038936 1 19
PHACS 2380 113080 G ADDITIVE 0 011000 0 89
PHACS 2381 2285029 A ADDITIVE 0012050 0 88
CTNNDl 2390 576859 A RECESSIVE 0 018240 0 75
CTNNDl 2391 2956981 A DOMINANT 0 045557 1 16
DLG2 2398 10501540 G RECESSIVE 0 047974 0 83
DLG2 2399 11233641 G RECESSIVE 0 038672 0 81
DLG2 2400 7116939 C RECESSIVE 0 049426 0 80
DLG2 2405 635823 G RECESSIVE 0 039970 0 81
DLG2 2420 10898330 C DOMINANT 0 019595 1 20
OPCML 2422 1823365 T DOMINANT 0 000367 0 72
OPCML 2423 2277271 C DOMINANT 0 028391 1 17
OPCML 2428 4554901 T RECESSIVE 0 021988 0 55
OPCML 2429 7945576 T ADDITIVE 0 041086 1 05
WNT5B 2430 10773971 G ADDITIVE 0 013765 1 63
WNT5B 2431 4766401 T RECESSIVE 0 016081 1 41
TSPAN9 2432 1860431 T ADDITIVE 0 044410 1 23
TSPAN9 2433 7969363 T DOMINANT 0 003161 1 23
TMEMl 6B 2437 10849338 G ADDITIVE 0 049314 0 86
TMEMl 6B 2438 3782652 G DOMINANT 0 023546 1 20
TMEMl 6B 2441 11832095 A DOMINANT 0 006913 1 21
TMEMl 6B 2442 11063875 T DOMINANT 0 008667 1 21
STYKl 2443 10845187 C RECESSIVE 0 027359 1 23
STYKl 2444 6488316 T RECESSIVE 0 048914 1 20
STYKl 2445 2418087 C RECESSIVE 0 038431 1 21
STYKl 2446 2418088 G RECESSIVE 0 045827 1 20
STYKl 2447 7350597 A RECESSIVE 0 044659 1 20
STYKl 2448 10743918 C DOMINANT 0 010106 0 83
LOC729025 2449 7955194 T DOMINANT 0 015742 0 83
LOC729025 2450 10219493 G DOMINANT 0 030417 0 84
LOC729025 2451 3847918 G DOMINANT 0 020876 0 83
LOC729025 2452 7297251 C DOMINANT 0 030287 0 84
LOC729025 2453 7297372 G DOMINANT 0 005504 0 81
LOC729025 2454 10772915 A DOMINANT 0 003516 0 80
LOC729025 2455 1913253 T DOMINANT 0 023973 0 83
LOC729025 2456 1799491 T DOMINANT 0 003693 0 80
LOC729025 2457 3915237 C DOMINANT 0 032814 0 86
PIK3C2G 2458 4491292 T DOMINANT 0 026816 1 17
PIK3C2G 2459 10841014 A ADDITIVE 0 003107 1 16
PIK3C2G 2460 9300118 G ADDITIVE 0 009854 1 17
PIK3C2G 2463 11044130 A ADDITIVE 0 043648 0 81
ITPR2 2465 11048447 T DOMINANT 0 036036 0 86
ITPR2 2466 9442 T DOMINANT 0 011697 0 83
ITPR2 2467 2570 C DOMINANT 0 014971 0 84
ITPR2 2469 11048588 G ADDITIVE 0 002640 0 91 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
ITPR2 2470 2230377 T ADDITIVE 0 003187 0 89
ITPR2 2471 6487566 A DOMINANT 0 013025 0 84
LRPl 2472 7975818 C RECESSIVE 0 014070 0 75
LRPl 2473 1800176 T RECESSIVE 0 019701 0 76
LRPl 2474 1800168 C RECESSIVE 0 019762 0 76
LRPl 2475 7301155 G RECESSIVE 0 019893 0 77
CNOT2 2477 7974636 T DOMINANT 0 016534 0 84
KCNC2 2478 4309217 A RECESSIVE 0 014095 0 75
KCNC2 2479 4131954 T RECESSIVE 0 012375 0 74
CHSTI l 2487 11112146 T ADDITIVE 0 037414 1 10
CHSTI l 2488 2453161 G DOMINANT 0 005432 0 82
CHSTI l 2489 2468110 A DOMINANT 0 004451 0 82
CHSTI l 2490 2642109 T DOMINANT 0 010529 0 83
CHSTI l 2491 1565815 T DOMINANT 0 034071 0 86
CHSTI l 2492 1038968 C DOMINANT 0 025751 0 85
CHSTI l 2493 2696006 T DOMINANT 0 021717 0 85
CHSTI l 2494 2463017 C DOMINANT 0 022342 0 85
CHSTI l 2495 2468082 G DOMINANT 0 021225 0 85
CHSTI l 2496 2468083 A DOMINANT 0 015754 0 84
KIAAl 853 2497 7134748 G RECESSIVE 0 047235 1 28
RIMBP2 2504 7132917 A ADDITIVE 0 040625 0 73
RIMBP2 2505 1982939 T ADDITIVE 0 039930 0 80
MTIF3 2515 7334690 A ADDITIVE 0 031553 0 89
N4BP2L2 2518 1081796 A RECESSIVE 0 030849 1 48
NBEA 2524 9600580 A RECESSIVE 0 035462 1 81
KPNA3 2533 7997798 A ADDITIVE 0 045890 0 84
KPNA3 2534 4942864 G ADDITIVE 0 039912 0 84
KPNA3 2535 9535347 G ADDITIVE 0 023264 0 86
PCDH17 2537 4564470 G ADDITIVE 0 003916 1 24
SLAINl 2553 1146920 C DOMINANT 0 016112 1 19
NALCN 2590 7321815 A RECESSIVE 0 000016 1 56
NALCN 2591 3751403 T RECESSIVE 0 000016 1 61
NALCN 2592 12430088 T RECESSIVE 0 000020 1 59
NALCN 2593 638732 C RECESSIVE 0 000202 1 48
NALCN 2594 2274085 T RECESSIVE 0 002256 1 30
NALCN 2595 7334863 C RECESSIVE 0 000134 1 44
NALCN 2596 1289556 G ADDITIVE 0 010143 0 89
NALCN 2597 9554752 T RECESSIVE 0 000046 1 51
NALCN 2598 633321 G ADDITIVE 0 024253 0 91
NALCN 2599 2044118 A RECESSIVE 0 000020 1 58
NALCN 2600 7986657 G RECESSIVE 0 000381 1 50
ITGBLl 2603 1335589 T RECESSIVE 0 018609 1 37
ITGBLl 2604 875117 G RECESSIVE 0 023042 1 36
ITGBLl 2605 875116 C RECESSIVE 0 021721 1 36
ITGBLl 2606 3783222 G RECESSIVE 0 006719 1 33
ITGBLl 2608 17686597 C DOMINANT 0 027308 1 20
ITGBLl 2609 2281991 G DOMINANT 0 020401 1 21
ITGBLl 2610 1469855 G DOMINANT 0 021955 1 20
ITGBLl 2611 1469853 G DOMINANT 0 028859 1 19
TTC5 2615 10139180 A ADDITIVE 0 013975 0 90
WDR23 2627 6573565 A RECESSIVE 0 015197 1 32
NOVAl 2628 6574950 C RECESSIVE 0 044675 >5
NOVAl 2629 178165 C RECESSIVE 0 037814 1 28 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
SLC25A21 2631 17105036 T DOMINANT 0 001136 0 63
SLC25A21 2632 712342 C ADDITIVE 0 020794 0 88
SLC25A21 2635 1950367 C ADDITIVE 0 014648 0 61
GNG2 2636 7158738 C RECESSIVE 0 039010 0 84
GNG2 2637 4278650 C ADDITIVE 0 025528 1 18
GNG2 2638 7148347 G ADDITIVE 0 025573 1 16
GNG2 2639 12878420 T RECESSIVE 0 038410 0 83
GNG2 2640 10131301 T RECESSIVE 0 015036 0 80
GNG2 2641 1959518 C DOMINANT 0 030573 1 18
GNG2 2642 1959517 A DOMINANT 0 031171 1 18
GNG2 2647 10873056 C ADDITIVE 0025723 1 43
SAMD4A 2648 4901520 A DOMINANT 0 006420 1 25
SAMD4A 2649 6572964 A RECESSIVE 0 004562 0 60
SAMD4A 2650 3813402 A DOMINANT 0 012538 1 20
DAAMl 2654 1272858 G ADDITIVE 0 012202 0 91
DAAMl 2655 2295850 C ADDITIVE 0 031869 0 91
GPR135 2656 1253165 A ADDITIVE 0 048407 0 91
GPR135 2657 11628147 A ADDITIVE 0 006366 0 90
GPR135 2658 1271183 T ADDITIVE 0 007668 0 90
GPR135 2659 1253170 T RECESSIVE 0 039459 0 80
GPR135 2660 10136708 G ADDITIVE 0 018228 0 89
PPP2R5E 2661 6573507 C RECESSIVE 0 036369 0 74
PPP2R5E 2662 6573508 C RECESSIVE 0 037725 0 74
PPP2R5E 2663 6573522 A DOMINANT 0 017188 1 18
PPP2R5E 2664 2754223 G DOMINANT 0 014128 1 19
PPP2R5E 2665 10129182 T ADDITIVE 0 003108 1 21
PPP2R5E 2666 964954 G DOMINANT 0 011911 1 19
PPP2R5E 2667 1255771 G DOMINANT 0 004338 1 23
PPP2R5E 2668 8021183 G ADDITIVE 0 002841 1 21
PPP2R5E 2669 1255741 A DOMINANT 0 024639 1 17
RGS6 2685 2526896 C RECESSIVE 0 023660 0 82
KCNKlO 2686 12587003 C RECESSIVE 0 002115 1 45
KCNKlO 2687 11627082 A RECESSIVE 0 000848 1 72
RPS6KA5 2698 1286146 G DOMINANT 0 005154 1 22
CCDC88C 2700 1970912 T ADDITIVE 0 012282 1 17
CCDC88C 2708 2295882 C ADDITIVE 0 035938 0 81
ATXN3 2710 8008215 G ADDITIVE 0 016375 0 83
RYR3 2718 2596229 A DOMINANT 0 022549 0 83
RYR3 2719 1560968 G DOMINANT 0 016056 0 83
RYR3 2720 2676085 A DOMINANT 0 006326 0 82
RYR3 2721 2676087 A DOMINANT 0 021488 0 83
RYR3 2722 2164249 C RECESSIVE 0 030824 0 83
RYR3 2723 2596159 T DOMINANT 0 018069 0 83
RYR3 2724 2596163 G DOMINANT 0 029746 0 85
RYR3 2725 2572189 T RECESSIVE 0 006751 0 79
RYR3 2726 2082753 A RECESSIVE 0 003879 0 77
RYR3 2727 2572175 A RECESSIVE 0 003637 0 78
RYR3 2728 2572169 A RECESSIVE 0 000866 0 74
RYR3 2729 2596175 A RECESSIVE 0 005002 0 78
RYR3 2730 744776 C ADDITIVE 0 029493 0 70
RYR3 2732 1390159 T RECESSIVE 0 027798 >5
RYR3 2734 7163140 T DOMINANT 0 002105 1 26
C15ORF41 2736 1901721 C DOMINANT 0 004128 0 75 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
C15ORF41 2737 10518905 C DOMINANT 0 004549 0 76
C15ORF41 2738 8033760 A DOMINANT 0 003999 0 75
C15ORF41 2739 16964046 T DOMINANT 0 014211 0 78
C15ORF41 2740 16964049 A DOMINANT 0 005453 0 76
C15ORF41 2741 16964052 G DOMINANT 0 006294 0 76
MEIS2 2742 16964229 C DOMINANT 0 020710 0 82
MEIS2 2743 12900044 T ADDITIVE 0 013848 1 12
MEIS2 2744 11638361 C ADDITIVE 0 021406 1 11
MEIS2 2745 12438771 T RECESSIVE 0 007917 1 24
KIAA1370 2747 1693523 C RECESSIVE 0 021736 1 44
KIAA1370 2748 11853179 T RECESSIVE 0008002 1 81
UNC13C 2750 2115825 A RECESSIVE 0 045016 1 19
UNC13C 2754 11636356 T DOMINANT 0 043811 1 17
UNC13C 2755 934192 A DOMINANT 0 012088 1 22
UNC13C 2756 1897069 G RECESSIVE 0 001261 0 76
UNC13C 2757 12439401 T RECESSIVE 0 001191 0 76
UNC13C 2758 12900128 C ADDITIVE 0 001591 1 25
UNC13C 2759 4517736 T RECESSIVE 0 022153 1 25
UNC13C 2760 12908083 T RECESSIVE 0 030215 1 23
UNC13C 2761 7172577 A RECESSIVE 0 023330 1 25
UNC13C 2762 4776220 T RECESSIVE 0 026425 1 24
UNC13C 2763 4776222 C RECESSIVE 0 019881 1 24
UNC13C 2764 573320 A RECESSIVE 0 019152 1 48
UNC13C 2765 8040774 T RECESSIVE 0 031914 1 22
UNC13C 2766 12592914 T DOMINANT 0 042845 0 87
NEDD4 2768 10518828 A RECESSIVE 0 005630 0 35
CGNLl 2769 1039979 T ADDITIVE 0 048156 1 07
CGNLl 2770 1706376 C ADDITIVE 0 048780 1 07
GRINLlA 2775 16977629 T ADDITIVE 0 023972 0 79
ADAMlO 2777 1427282 T ADDITIVE 0 026787 1 05
ADAMlO 2778 972801 C ADDITIVE 0 032827 1 08
ADAMlO 2780 514049 A RECESSIVE 0 029312 1 23
TBC1D2B 2782 4591100 C DOMINANT 0 020383 1 18
TBC1D2B 2783 16969397 T RECESSIVE 0 012908 0 18
ARNT2 2785 4238521 A RECESSIVE 0 000302 0 38
ARNT2 2788 11072927 T ADDITIVE 0 044369 0 97
AKAP 13 2796 7180923 A RECESSIVE 0 039654 0 83
AKAP 13 2797 2880765 A RECESSIVE 0 032081 0 83
AKAP 13 2798 4842888 T RECESSIVE 0 031967 0 83
AKAP 13 2799 3743321 A RECESSIVE 0 026612 0 82
AKAP 13 2800 8026938 T RECESSIVE 0 022401 0 82
AKAP 13 2801 6496055 A RECESSIVE 0 020444 0 82
AKAP 13 2802 11632326 A RECESSIVE 0 007324 0 79
AKAP 13 2804 10520594 A RECESSIVE 0 014430 1 52
AKAP 13 2805 17571078 G RECESSIVE 0 031478 1 45
AKAP 13 2807 11631015 G DOMINANT 0 025944 0 85
AKAP 13 2810 12909648 A RECESSIVE 0 029193 1 20
AKAP 13 2811 7181796 C RECESSIVE 0 018794 1 49
AKAP 13 2813 338535 A ADDITIVE 0 021891 0 80
SLCO3A1 2818 207970 T RECESSIVE 0 019343 0 72
SLCO3A1 2820 960440 G DOMINANT 0 045442 1 16
ST8SIA2 2821 2035645 A RECESSIVE 0 006841 1 28
RGMA 2822 12438714 T RECESSIVE 0 011283 4 32 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
A2BP1 2826 7201725 G DOMINANT 0 017247 1 27
A2BP1 2827 12443531 A DOMINANT 0 018749 1 28
A2BP1 2831 4274456 T RECESSIVE 0 045300 0 80
A2BP1 2836 7197039 C ADDITIVE 0 009536 1 36
N4BP1 2839 9933187 T ADDITIVE 0 049264 1 13
N4BP1 2840 9937623 T ADDITIVE 0 047294 1 12
GOT2 2841 6993 T RECESSIVE 0 011580 1 33
GOT2 2842 30842 T RECESSIVE 0 022879 1 33
GOT2 2844 257637 T ADDITIVE 0 036785 1 11
GOT2 2847 185397 T ADDITIVE 0 049385 1 12
GOT2 2848 11076262 G RECESSIVE 0036619 1 26
GOT2 2849 6499976 A RECESSIVE 0 026537 1 32
GOT2 2850 1595181 A RECESSIVE 0 047739 1 24
GOT2 2851 10852565 C RECESSIVE 0 019138 1 34
GOT2 2852 4784986 T RECESSIVE 0 015787 1 37
WWOX 2857 7184271 C RECESSIVE 0 030927 0 83
MPHOSPH6 2864 2967370 A DOMINANT 0 020494 1 18
MPHOSPH6 2865 1862820 C DOMINANT 0 043415 1 15
MPHOSPH6 2866 2911391 G DOMINANT 0 036535 1 16
CDH13 2869 11149556 G RECESSIVE 0 013336 0 79
CDH13 2870 9940179 A DOMINANT 0 005530 0 81
CDH13 2871 6563892 A DOMINANT 0 001664 0 80
CDH13 2872 10514579 C DOMINANT 0 002875 0 81
CDH13 2873 444881 G RECESSIVE 0 022470 1 26
CDH13 2874 4782841 G RECESSIVE 0 032078 1 50
KIAA0182 2879 1053328 A DOMINANT 0 029274 0 85
DNAH9 2881 9904592 A DOMINANT 0 004777 1 27
DNAH9 2883 1990236 A ADDITIVE 0 030533 0 84
RAB11FIP4 2885 770520 T ADDITIVE 0 041981 0 97
CAlO 2888 952258 C DOMINANT 0 003866 1 23
CAlO 2889 349947 A DOMINANT 0 009860 1 20
CAlO 2890 349914 G DOMINANT 0 009759 1 20
CAlO 2891 6504780 T DOMINANT 0 024457 1 17
CAlO 2892 9916020 G RECESSIVE 0 016853 1 28
SDK2 2895 9909121 A DOMINANT 0 034090 0 85
SDK2 2896 7219778 A DOMINANT 0 032294 0 85
DLGAPl 2902 1791375 A ADDITIVE 0 021983 0 84
DLGAPl 2903 11876399 C ADDITIVE 0 042241 0 83
ZFP161 2904 9948693 T ADDITIVE 0 034816 1 11
ZFP161 2905 1539935 C DOMINANT 0 023740 0 84
ZFP161 2906 2155686 G DOMINANT 0 040997 0 85
ZFP161 2907 990072 T ADDITIVE 0 037763 0 87
ZFP161 2908 9957892 C RECESSIVE 0 016403 1 26
ZFP161 2909 11665417 T RECESSIVE 0 017340 1 25
ZFP161 2910 9945680 A RECESSIVE 0 014368 1 26
PTPRM 2912 11081352 T DOMINANT 0 021126 1 18
PTPRM 2913 2156236 T DOMINANT 0 008387 1 21
PTPRM 2914 5000485 T DOMINANT 0 009215 1 20
PTPRM 2915 1942958 T DOMINANT 0 011456 1 20
PTPRM 2916 8088354 A DOMINANT 0 009717 1 21
PTPRM 2917 649598 T DOMINANT 0 016659 1 19
PTPRM 2918 623258 T DOMINANT 0 048530 1 15
PTPRM 2919 2230601 C DOMINANT 0 041904 1 17 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
PTPRM 2920 619379 C DOMINANT 0 021461 1 18
PTPRM 2921 502843 T DOMINANT 0 011208 1 20
PTPRM 2922 552448 T DOMINANT 0 020617 1 18
PTPRM 2923 507445 T DOMINANT 0 047780 1 15
KIAA0802 2924 1000080 C ADDITIVE 0 034821 0 93
KIAA0802 2925 11877395 T ADDITIVE 0 026018 0 91
KIAA0802 2926 10502383 A ADDITIVE 0 024860 0 90
KIAA0802 2927 17407982 C ADDITIVE 0 023943 0 91
KIAA0802 2928 17408213 A ADDITIVE 0 023207 0 90
OSBPLlA 2930 9945595 C DOMINANT 0 002700 0 70
OSBPLlA 2931 275857 C DOMINANT 0004533 0 71
FUSSEL18 2939 1434507 T RECESSIVE 0 003435 0 66
FUSSEL18 2940 1434514 C RECESSIVE 0 009662 0 74
FUSSEL18 2941 11877471 G RECESSIVE 0 011304 0 75
KIAA0427 2943 169936 A ADDITIVE 0 041137 0 86
KIAA0427 2944 1384227 C ADDITIVE 0 001146 0 84
KIAA0427 2945 1384226 A DOMINANT 0 005707 0 82
KIAA0427 2946 16949850 G ADDITIVE 0 000385 0 83
KIAA0427 2947 9947954 C ADDITIVE 0 012909 0 86
KIAA0427 2948 877885 A ADDITIVE 0 000926 0 83
DCC 2960 7233997 A DOMINANT 0 014859 0 83
DCC 2961 9957443 G DOMINANT 0 020159 0 84
DCC 2963 2879526 G DOMINANT 0 021401 0 85
DOK6 2983 9947842 C RECESSIVE 0 022893 1 72
DOK6 2984 2364201 T ADDITIVE 0 020490 1 15
DOK6 2985 10871643 G ADDITIVE 0 012735 1 15
DOK6 2986 9964498 T ADDITIVE 0 049292 1 05
DOK6 2987 12966827 C ADDITIVE 0 027862 1 20
DOK6 2988 1550597 C ADDITIVE 0 041182 1 18
DOK6 2989 1550598 A ADDITIVE 0 042207 1 22
DOK6 2990 1992488 C ADDITIVE 0 037761 1 20
DOK6 2992 12967804 T RECESSIVE 0 039890 1 20
DOK6 2993 12968689 A RECESSIVE 0 039259 1 20
DOK6 2994 9965360 A DOMINANT 0 028614 0 85
MBP 2996 12967023 A ADDITIVE 0 035505 1 20
MBP 2997 17576996 C ADDITIVE 0 031055 1 21
MBP 2998 7232502 T DOMINANT 0 009987 1 21
MBP 2999 8085877 G RECESSIVE 0 033747 1 27
MBP 3000 1868655 C ADDITIVE 0 035758 1 09
ZNF667 3003 7251105 G DOMINANT 0 038115 0 86
RNF24 3008 2143235 A ADDITIVE 0 007496 1 24
FERMTl 3015 16991765 A RECESSIVE 0 001650 3 26
FERMTl 3016 11700199 A RECESSIVE 0 001192 4 88
FERMTl 3017 11700084 C RECESSIVE 0 010871 1 88
FERMTl 3018 6516104 T RECESSIVE 0 001978 4 07
FERMTl 3019 7268391 C RECESSIVE 0 002881 3 91
PLCBl 3020 6118083 G RECESSIVE 0 039048 0 68
PLCBl 3026 1237829 A DOMINANT 0 028785 0 86
PLCBl 3027 1237071 A DOMINANT 0 024043 0 85
PLCB4 3033 6086900 T RECESSIVE 0 024142 0 20
PLCB4 3034 6077549 T RECESSIVE 0 011337 0 65
PLCB4 3035 6077552 G RECESSIVE 0 043659 0 32
MACROD2 3039 6079391 T RECESSIVE 0 011533 1 26 TABLE 2: Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia
Gene Sequence ID NCBI RS# Allele Model P Odds Ratio
MACROD2 3041 2208135 G RECESSIVE 0 024086 0 82
MACROD2 3043 6074905 A RECESSIVE 0 030731 0 82
MACROD2 3046 6034296 G RECESSIVE 0 033971 1 56
MACROD2 3047 175810 G RECESSIVE 0 029735 1 59
MACROD2 3048 175805 T RECESSIVE 0 039405 1 53
MACROD2 3049 6080100 C DOMINANT 0 010450 1 20
KIF 16B 3051 6044021 T DOMINANT 0 005183 0 81
PTPRT 3058 2223540 T DOMINANT 0 042570 0 87
KCNBl 3059 6095546 A DOMINANT 0 017233 1 18
PTGIS 3060 4647 T DOMINANT 0 021768 1 18
PTGIS 3061 5629 A DOMINANT 0015779 1 19
PTGIS 3062 6019876 C DOMINANT 0 031979 1 16
PTGIS 3063 495146 T ADDITIVE 0 044751 1 16
BMP7 3065 6070015 A RECESSIVE 0 024126 0 20
BMP7 3066 162313 A DOMINANT 0 016012 0 82
BMP7 3067 2180782 C DOMINANT 0 001178 0 78
BMP7 3068 1015985 A DOMINANT 0 013295 0 81
BMP7 3069 6127980 A DOMINANT 0 036373 0 84
BMP7 3070 6127985 A DOMINANT 0 003333 0 80
GNAS 3072 8386 T DOMINANT 0 019343 0 60
CDH4 3076 6028127 G RECESSIVE 0 019399 0 75
CDH4 3077 6061722 C ADDITIVE 0 002832 1 11
CDH4 3078 6121761 A DOMINANT 0 011894 1 20
CDH4 3079 6121764 G DOMINANT 0 009310 1 21
CDH4 3080 1317385 C DOMINANT 0 006347 1 22
CDH4 3082 2427142 G DOMINANT 0 008281 0 82
CDH4 3083 6089264 G DOMINANT 0 016691 1 19
CDH4 3084 6089476 A ADDITIVE 0 018997 1 23
CDH4 3085 6089479 G DOMINANT 0 016246 1 19
NCAM2 3091 2826349 G DOMINANT 0 031339 0 86
NCAM2 3092 2826351 A DOMINANT 0 025268 0 85
NCAM2 3093 9980583 G RECESSIVE 0 002420 0 54
PCP4 3110 1011037 A ADDITIVE 0 011279 0 79
PCP4 3111 2837283 T ADDITIVE 0 034281 0 82
PCP4 3112 2837286 C ADDITIVE 0 035252 0 82
SLC37A1 3114 228058 A DOMINANT 0 023159 1 19
SLC37A1 3115 228067 A DOMINANT 0 015615 1 21
ARVCF 3120 2239395 G RECESSIVE 0 017496 >5
HPS4 3123 929131 T ADDITIVE 0 046458 0 80
RIBC2 3141 5765425 A DOMINANT 0 029442 0 85
TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3)
Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
1 KIFlB 1 10,323,189 2 PRDM2 1 13,817,155
3 RP1-21O18 1 1 15,149,071 4 RPl-21018 1 1 15,160,805
5 RP1-21O18 1 1 15,278,076 6 RPl-21018 1 1 15,281,743
7 RP1-21O18 1 1 15,284,856 8 RPl-21018 1 1 15,287,000
9 EPHB2 1 23,091,301 10 EPHB2 1 23,092,613
11 CLIC4 1 24,939,035 12 CLIC4 1 25,040,711
13 AGBL4-C1ORF165 1 49,010,181 14 AGBL4-C1ORF165 1 49,013,544
15 AGBL4-C1ORF165 1 49,021,571 16 AGBL4-C1ORF165 1 49,025,043
17 AGBL4-C1ORF165 1 49,046,634 18 AGBL4-C1ORF165 1 49,109,043
19 AGBL4-C1ORF165 1 49,214,610 20 AGBL4-C1ORF165 1 49,219,672
21 AGBL4-C1ORF165 1 49,223,291 22 AGBL4-C1ORF165 1 49,236,388
23 AGBL4-C1ORF165 1 49,239,649 24 AGBL4-C1ORF165 1 49,240,612
25 AGBL4-C1ORF165 1 49,243,353 26 AGBL4-C1ORF165 1 49,255,290
27 AGBL4-C1ORF165 1 49,278,082 28 LRP8 1 53,480,541
29 LRP8 1 53,484,323 30 LRP8 1 53,486,137
31 LRP8 1 53,495,778 32 LRP8 1 53,495,937
33 LRP8 1 53,504,903 34 LRP8 1 53,519,183
35 LRP8 1 53,524,198 36 LRP8 1 53,581,281
37 LRP8 1 53,584,530 38 LRP8 1 53,584,799
39 PRKACB 1 84,421,173 40 SLC6A17 1 110,525,368
41 SLC6A17 1 110,533,656 42 SLC16A4 1 110,706,448
43 SLC16A4 1 110,711,920 44 SLC16A4 1 110,723,238
45 KCNAlO 1 110,862,534 46 SYT6 1 114,452,599
47 NGF 1 115,662,788 48 NGF 1 115,668,794
49 NGF 1 115,674,570 50 NGF 1 115,677,168
51 NGF 1 115,679,147 52 SLC22A15 1 116,328,295
53 SLC22A15 1 116,328,591 54 SLC22A15 1 116,406,946
55 PTGFRN 1 117,277,238 56 PTGFRN 1 117,316,638
57 PTGFRN 1 117,324,524 58 PTGFRN 1 117,333,336
59 CGN 1 149,743,817 60 CGN 1 149,743,936
61 CGN 1 149,763,826 62 CGN 1 149,776,650
63 ATF6 1 160,007,898 64 ATF6 1 160,014,680
65 ATF6 1 160,038,140 66 ATF6 1 160,052,935
67 ATF6 1 160,058,351 68 ATF6 1 160,062,520
69 ATF6 1 160,076,775 70 ATF6 1 160,101,070
71 ATF6 1 160,102,111 72 ATF6 1 160,107,168
73 ATF6 1 160,118,977 74 ATF6 1 160,166,085
75 ATF6 1 160,166,355 76 ATF6 1 160,173,294
77 ATF6 1 160,176,223 78 ATF6 1 160,176,587
79 ATF6 1 160,197,100 80 OLFML2B 1 160,230,231
81 OLFML2B 1 160,230,414 82 OLFML2B 1 160,231,160
83 OLFML2B 1 160,231,641 84 OLFML2B 1 160,233,911
85 FAM78B 1 164,307,179 86 FAM78B 1 164,382,610
87 FAM78B 1 164,385,520 88 FAM78B 1 164,388,390
89 FAM78B 1 164,392,047 90 DPT 1 166,961,651
91 SEC16B 1 176,201,673 92 CACNAlE 1 179,723,323
93 CACNAlE 1 179,726,011 94 CACNAlE 1 179,745,206
95 CACNAlE 1 179,746,806 96 CACNAlE 1 179,845,854
97 CACNAlE 1 179,913,657 98 CACNAlE 1 179,939,026
99 CACNAlE 1 179,941,514 100 CACNAlE 1 179,980,795
101 CACNAlE 1 179,993,896 102 CACNAlE 1 180,019,653
103 LAMCl 1 181,258,040 104 LAMCl 1 181,290,319
105 LAMCl 1 181,295,593 106 LAMCl 1 181,299,851 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
107 LAMCl 1 181,319,156 108 LAMCl 1 181,342,355
109 LAMCl 1 181,342,401 110 LAMCl 1 181,343,643
111 LAMCl 1 181,344,420 112 LAMCl 1 181,344,519
113 LAMCl 1 181,348,490 114 LAMCl 1 181,352,319
115 LAMCl 1 181,352,378 116 LAMCl 1 181,359,123
117 LAMCl 1 181,359,651 118 LAMCl 1 181,366,003
119 LAMCl 1 181,374,069 120 LAMCl 1 181,375,234
121 PLA2G4A 1 185,146,514 122 KCNHl 1 209,006,965
123 KCNHl 1 209,007,097 124 KCNHl 1 209,024,314
125 KCNHl 1 209,149,546 126 KCNHl 1 209,219,982
127 KCNHl 1 209,229,662 128 KCNHl 1 209,339,441
129 KCNHl 1 209,361,502 130 KCNK2 1 213,245,368
131 KCNK2 1 213,266,926 132 KCNK2 1 213,312,765
133 KCNK2 1 213,428,830 134 KCNK2 1 213,444,580
135 KCNK2 1 213,453,686 136 KCNK2 1 213,456,232
137 KCNK2 1 213,474,680 138 USH2A 1 213,507,653
139 USH2A 1 213,585,997 140 USH2A 1 213,857,628
141 USH2A 1 213,883,311 142 USH2A 1 214,020,229
143 ESRRG 1 214,908,407 144 ESRRG 1 214,962,423
145 SLC35F3 1 232,337,540 146 SLC35F3 1 232,338,040
147 SLC35F3 1 232,344,068 148 SLC35F3 1 232,348,338
149 SLC35F3 1 232,349,217 150 SLC35F3 1 232,515,592
151 GNG4 1 233,794,439 152 GNG4 1 233,869,010
153 GNG4 1 233,869,096 154 RYR2 1 235,313,686
155 RYR2 1 235,400,588 156 RYR2 1 235,593,923
157 RYR2 1 235,793,735 158 RYR2 1 235,795,490
159 CHRM3 1 237,867,474 160 FMN2 1 238,486,712
161 FMN2 1 238,494,888 162 FMN2 1 238,564,221
163 FMN2 1 238,564,870 164 FMN2 1 238,575,081
165 FMN2 1 238,575,190 166 RGS7 1 239,432,765
167 PLD5 1 240,696,081 168 PLD5 1 240,696,530
169 C2ORF46A 2 8,256,296 170 C2ORF46A 2 8,262,682
171 C2ORF46A 2 8,276,150 172 DDEF2 2 9,293,513
173 DDEF2 2 9,309,142 174 DDEF2 2 9,320,439
175 DDEF2 2 9,335,725 176 DDEF2 2 9,347,069
177 DDEF2 2 9,347,151 178 DDEF2 2 9,351,380
179 DDEF2 2 9,352,262 180 DDEF2 2 9,352,592
181 DDEF2 2 9,356,883 182 DDEF2 2 9,358,353
183 DDEF2 2 9,361,294 184 DDEF2 2 9,375,632
185 DDEF2 2 9,375,911 186 DDEF2 2 9,376,857
187 DDEF2 2 9,377,685 188 DDEF2 2 9,383,138
189 DDEF2 2 9,392,788 190 DDEF2 2 9,398,018
191 DDEF2 2 9,431,301 192 KCNFl 2 10,935,452
193 NAG 2 15,335,505 194 NAG 2 15,368,097
195 HS1BP3 2 20,680,974 196 HS1BP3 2 20,681,154
197 HS1BP3 2 20,702,827 198 KLHL29 2 23,469,562
199 KLHL29 2 23,482,236 200 KLHL29 2 23,503,207
201 KLHL29 2 23,504,556 202 KLHL29 2 23,504,709
203 KLHL29 2 23,504,805 204 KLHL29 2 23,512,565
205 KLHL29 2 23,518,985 206 KLHL29 2 23,519,201
207 KLHL29 2 23,529,537 208 KLHL29 2 23,554,108
209 KLHL29 2 23,554,609 210 ASXL2 2 25,823,233
211 ASXL2 2 25,859,983 212 ASXL2 2 25,871,731 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3)
Sec ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
213 CIB4 2 26,718,111 214 KCNK3 2 26,806,502
215 DPYSL5 2 26,936,063 216 DPYSL5 2 26,936,993
217 BRE 2 27,955,442 218 BRE 2 28,059,085
219 BRE 2 28,085,591 220 BRE 2 28,094,029
221 BRE 2 28,121,971 222 BRE 2 28,377,338
223 CRIMl 2 36,532,532 224 CRIMl 2 36,535,123
225 CRIMl 2 36,545,455 226 CRIMl 2 36,549,124
227 CRIMl 2 36,553,482 228 CRIMl 2 36,554,084
229 CRIMl 2 36,557,648 230 CRIMl 2 36,558,502
231 CRIMl 2 36,581,523 232 CRIMl 2 36,581,946
233 CRIMl 2 36,592,075 234 CRIMl 2 36,594,147
235 CRIMl 2 36,598,516 236 CRIMl 2 36,610,853
237 CRIMl 2 36,611,604 238 FEZ2 2 36,632,391
239 FEZ2 2 36,634,053 240 FEZ2 2 36,634,284
241 FEZ2 2 36,634,524 242 FEZ2 2 36,634,642
243 FEZ2 2 36,634,905 244 FEZ2 2 36,644,730
245 FEZ2 2 36,645,798 246 FEZ2 2 36,655,361
247 FEZ2 2 36,657,394 248 FEZ2 2 36,663,977
249 FEZ2 2 36,672,274 250 FEZ2 2 36,673,724
251 CDC42EP3 2 37,718,574 252 CDC42EP3 2 37,726,375
253 SLC8A1 2 40,381,169 254 SLC8A1 2 40,406,693
255 SLC8A1 2 40,409,237 256 HAAO 2 42,900,658
257 HAAO 2 42,911,782 258 PLEKHH2 2 43,817,582
259 PLEKHH2 2 43,839,444 260 PLEKHH2 2 43,846,952
261 C2ORF34 2 44,443,570 262 C2ORF34 2 44,446,479
263 C2ORF34 2 44,457,570 264 C2ORF34 2 44,458,445
265 C2ORF34 2 44,474,546 266 C2ORF34 2 44,497,761
267 C2ORF34 2 44,499,415 268 C2ORF34 2 44,500,542
269 C2ORF34 2 44,501,551 270 C2ORF34 2 44,503,622
271 C2ORF34 2 44,503,754 272 C2ORF34 2 44,508,409
273 C2ORF34 2 44,514,120 274 C2ORF34 2 44,516,656
275 C2ORF34 2 44,524,500 276 C2ORF34 2 44,524,913
277 C2ORF34 2 44,525,669 278 C2ORF34 2 44,527,954
279 C2ORF34 2 44,529,327 280 C2ORF34 2 44,529,730
281 C2ORF34 2 44,532,789 282 C2ORF34 2 44,536,723
283 C2ORF34 2 44,538,657 284 C2ORF34 2 44,539,189
285 C2ORF34 2 44,546,928 286 C2ORF34 2 44,556,482
287 C2ORF34 2 44,574,451 288 C2ORF34 2 44,576,627
289 C2ORF34 2 44,584,000 290 C2ORF34 2 44,584,081
291 C2ORF34 2 44,588,327 292 C2ORF34 2 44,588,942
293 C2ORF34 2 44,589,457 294 C2ORF34 2 44,593,376
295 C2ORF34 2 44,599,767 296 C2ORF34 2 44,610,492
297 C2ORF34 2 44,613,163 298 C2ORF34 2 44,621,606
299 C2ORF34 2 44,631,967 300 C2ORF34 2 44,635,233
301 C2ORF34 2 44,643,689 302 C2ORF34 2 44,645,848
303 C2ORF34 2 44,648,280 304 C2ORF34 2 44,815,520
305 C2ORF34 2 44,834,212 306 C2ORF34 2 44,846,991
307 PRKCE 2 45,955,890 308 PRKCE 2 45,979,919
309 PRKCE 2 46,065,162 310 PRKCE 2 46,141,058
311 EPASl 2 46,449,937 312 EPASl 2 46,451,331
313 EPASl 2 46,462,046 314 PSME4 2 53,987,248
315 ACYP2 2 54,216,479 316 CCDC85A 2 56,457,489
317 COMMDl 2 62,054,981 318 COMMDl 2 62,127,627 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
319 COMMDl 2 62,193,184 320 COMMDl 2 62,221,224
321 AAKl 2 69,569,349 322 AAKl 2 69,630,234
323 AAKl 2 69,635,501 324 AAKl 2 69,637,782
325 AAKl 2 69,685,140 326 AAKl 2 69,832,899
327 CTNNA2 2 79,635,253 328 CTNNA2 2 79,726,512
329 CTNNA2 2 79,826,944 330 CTNNA2 2 80,167,469
331 CTNNA2 2 80,218,704 332 CTNNA2 2 80,251,439
333 CTNNA2 2 80,252,218 334 CTNNA2 2 80,266,636
335 CTNNA2 2 80,266,949 336 CTNNA2 2 80,274,207
337 CTNNA2 2 80,274,788 338 CTNNA2 2 80,287,912
339 CTNNA2 2 80,288,147 340 CTNNA2 2 80,299,023
341 CTNNA2 2 80,304,589 342 CTNNA2 2 80,304,695
343 CTNNA2 2 80,305,615 344 CTNNA2 2 80,313,674
345 INPP4A 2 98,530,592 346 NAP5 2 133,502,847
347 NAP5 2 133,546,849 348 NAP5 2 133,547,260
349 NAP5 2 133,589,500 350 NAP5 2 134,042,993
351 RAB3GAP1 2 135,513,693 352 RAB3GAP1 2 135,520,236
353 RAB3GAP1 2 135,535,377 354 RAB3GAP1 2 135,607,078
355 RAB3GAP1 2 135,624,316 356 ZRANB3 2 135,867,882
357 LRPlB 2 140,711,565 358 LRPlB 2 140,749,675
359 LRPlB 2 141,253,166 360 LRPlB 2 141,287,799
361 LRPlB 2 141,480,634 362 LRPlB 2 141,495,066
363 LRPlB 2 141,495,534 364 LRPlB 2 142,281,762
365 LRPlB 2 142,298,733 366 LRPlB 2 142,358,098
367 LRPlB 2 142,360,248 368 LRPlB 2 142,363,092
369 LRPlB 2 142,363,404 370 LRPlB 2 142,371,205
371 LRPlB 2 142,518,411 372 LRPlB 2 142,529,079
373 LRPlB 2 142,529,190 374 LRPlB 2 142,530,425
375 LRPlB 2 142,537,344 376 LRPlB 2 142,544,454
377 LRPlB 2 142,568,099 378 LRPlB 2 142,572,993
379 LRPlB 2 142,590,723 380 LRPlB 2 142,591,415
381 LRPlB 2 142,592,521 382 KYNU 2 143,365,273
383 KYNU 2 143,436,812 384 KYNU 2 143,474,395
385 ARHGAP 15 2 143,773,914 386 ARHGAP 15 2 143,999,263
387 ARHGAP 15 2 144,018,166 388 ARHGAP 15 2 144,025,496
389 ARHGAP 15 2 144,034,639 390 ARHGAP 15 2 144,059,774
391 ARHGAP 15 2 144,264,615 392 ARHGAP 15 2 144,283,468
393 ARHGAP 15 2 144,294,622 394 CACNB4 2 152,552,320
395 FMNL2 2 153,113,840 396 FMNL2 2 153,122,655
397 FMNL2 2 153,123,190 398 FMNL2 2 153,153,555
399 KCNJ3 2 155,340,539 400 PKP4 2 159,101,556
401 PKP4 2 159,208,949 402 PLA2R1 2 160,516,560
403 PLA2R1 2 160,543,237 404 PLA2R1 2 160,594,118
405 PLA2R1 2 160,598,673 406 PLA2R1 2 160,599,255
407 PLA2R1 2 160,599,934 408 KCNH7 2 163,243,409
409 KCNH7 2 163,253,109 410 KCNH7 2 163,256,031
411 SCN3A 2 165,694,177 412 SCN2A 2 165,846,854
413 SCN2A 2 165,927,516 414 SCN2A 2 165,927,991
415 SCN2A 2 165,948,264 416 SCNlA 2 166,626,965
417 SCNlA 2 166,628,663 418 SCNlA 2 166,629,033
419 SCNlA 2 166,632,718 420 SCNlA 2 166,633,217
421 SCNlA 2 166,633,417 422 SCN9A 2 166,764,674
423 SCN9A 2 166,814,951 424 SCN9A 2 166,844,835 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
425 SCN9A 2 166,853,220 426 SCN7A 2 166,970,242
427 SCN7A 2 166,991,078 428 SCN7A 2 167,027,829
429 SCN7A 2 167,034,898 430 SCN7A 2 167,056,881
431 SCN7A 2 167,057,716 432 CERKL 2 182,228,354
433 PDElA 2 182,874,241 434 PDElA 2 182,910,657
435 PDElA 2 182,918,516 436 PDElA 2 182,919,054
437 PDElA 2 182,919,225 438 PDElA 2 182,932,372
439 PDElA 2 182,970,373 440 PDElA 2 182,971,998
441 NABl 2 191,177,207 442 TMEFF2 2 192,701,461
443 TMEFF2 2 192,712,421 444 TMEFF2 2 192,715,868
445 TMEFF2 2 192,740,989 446 TMEFF2 2 192,743,968
447 ALS2A 2 202,269,099 448 ABI2 2 203,952,004
449 AB 12 2 203,985,853 450 PARD3B 2 205,237,235
451 PARD3B 2 205,244,163 452 PARD3B 2 205,538,236
453 PARD3B 2 206,182,257 454 PARD3B 2 206,188,103
455 NRP2 2 206,300,940 456 NRP2 2 206,301,486
457 NRP2 2 206,318,296 458 PIP5K3 2 208,843,584
459 ERBB4 2 211,945,133 460 ERBB4 2 213,507,240
461 ERBB4 2 213,507,896 462 IRSl 2 227,304,756
463 IRSl 2 227,307,777 464 IRSl 2 227,310,525
465 IRSl 2 227,322,249 466 IRSl 2 227,322,481
467 IRSl 2 227,385,837 468 IRSl 2 227,388,355
469 COL4A4 2 227,575,963 470 COL4A4 2 227,581,239
471 COL4A4 2 227,583,201 472 COL4A4 2 227,583,604
473 COL4A4 2 227,591,892 474 COL4A4 2 227,597,803
475 COL4A4 2 227,600,105 476 COL4A4 2 227,601,261
477 COL4A4 2 227,604,676 478 COL4A4 2 227,604,896
479 COL4A4 2 227,606,678 480 COL4A4 2 227,608,663
481 COL4A4 2 227,613,183 482 COL4A4 2 227,664,311
483 COL4A3 2 227,857,351 484 COL4A3 2 227,864,201
485 COL4A3 2 227,864,848 486 COL4A3 2 227,885,723
487 COL4A3 2 227,886,069 488 DNER 2 229,964,830
489 DNER 2 229,972,935 490 DNER 2 230,109,326
491 DNER 2 230,110,447 492 DNER 2 230,145,109
493 ECELl 2 233,017,310 494 CHRND 2 233,088,264
495 SAG 2 233,912,247 496 SAG 2 233,912,366
497 SAG 2 233,912,663 498 CENTG2 2 236,372,905
499 CENTG2 2 236,487,308 500 CENTG2 2 236,601,492
501 CNTN6 3 1,206,334 502 CNTN6 3 1,222,859
503 CNTN6 3 1,372,069 504 CNTN6 3 1,372,414
505 CNTN6 3 1,396,673 506 CNTN6 3 1,396,885
507 CNTN6 3 1,396,900 508 CNTN6 3 1,399,718
509 CNTN6 3 1,399,850 510 CNTN6 3 1,400,168
511 CNTN6 3 1,400,506 512 CNTN6 3 1,417,951
513 CNTN4 3 2,461,763 514 CNTN4 3 2,462,786
515 CNTN4 3 2,584,580 516 CNTN4 3 2,588,001
517 CNTN4 3 2,729,042 518 CNTN4 3 2,733,163
519 CNTN4 3 2,734,283 520 CNTN4 3 2,751,927
521 CNTN4 3 3,044,773 522 CNTN4 3 3,068,277
523 CNTN4 3 3,071,927 524 CNTN4 3 3,073,041
525 ITPRl 3 4,527,968 526 ITPRl 3 4,536,649
527 ITPRl 3 4,646,029 528 ITPRl 3 4,646,393
529 ITPRl 3 4,651,285 530 ITPRl 3 4,688,093 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
531 IRAK2 3 10,216,875 532 IRAK2 3 10,247,181
533 IRAK2 3 10,251,163 534 ATP2B2 3 10,388,601
535 SLC6A11 3 10,844,124 536 SLC6A1 3 11,055,169
537 SLC6A6 3 14,503,422 538 GADLl 3 30,846,244
539 FBXL2 3 33,268,762 540 CLASP2 3 33,516,308
541 CLASP2 3 33,516,362 542 CLASP2 3 33,584,334
543 CLASP2 3 33,628,626 544 CLASP2 3 33,712,097
545 CLASP2 3 33,726,022 546 ARPP-21 3 35,699,600
547 ARPP-21 3 35,754,086 548 ARPP-21 3 35,754,754
549 ARPP-21 3 35,756,766 550 ARPP-21 3 35,760,300
551 ARPP-21 3 35,760,612 552 STAC 3 36,407,617
553 ULK4 3 41,276,512 554 ULK4 3 41,276,538
555 ULK4 3 41,278,091 556 ULK4 3 41,280,179
557 ULK4 3 41,347,094 558 ULK4 3 41,353,625
559 ULK4 3 41,395,796 560 ULK4 3 41,430,367
561 ZNF445 3 44,472,605 562 GPXl 3 49,853,082
563 GPXl 3 49,865,617 564 CAMKV 3 49,877,164
565 SEMA3F 3 50,171,422 566 SEMA3F 3 50,200,033
567 CACNA2D2 3 50,404,286 568 CACNA2D2 3 50,406,198
569 CACNA2D2 3 50,406,414 570 CACNA2D2 3 50,424,066
571 CACNA2D2 3 50,432,231 572 CACNA2D2 3 50,436,244
573 CACNA2D2 3 50,451,382 574 CACNA2D2 3 50,458,441
575 CACNA2D2 3 50,496,406 576 CACNA2D2 3 50,499,225
577 CACNA2D2 3 50,499,562 578 CACNA2D2 3 50,500,021
579 CACNA2D2 3 50,523,899 580 CACNA2D3 3 54,123,584
581 CACNA2D3 3 54,986,416 582 CACNA2D3 3 54,986,679
583 CACNA2D3 3 54,996,262 584 CACNA2D3 3 55,011,390
585 CACNA2D3 3 55,019,916 586 ERC2 3 55,776,128
587 ERC2 3 55,924,525 588 FLNB 3 58,083,555
589 FLNB 3 58,144,512 590 FHIT 3 59,814,275
591 FHIT 3 59,921,424 592 FHIT 3 59,928,545
593 FHIT 3 59,941,593 594 FHIT 3 59,956,110
595 FHIT 3 59,957,080 596 FHIT 3 59,966,929
597 FHIT 3 59,968,262 598 FHIT 3 60,123,563
599 FHIT 3 60,334,358 600 FHIT 3 60,350,356
601 FHIT 3 60,755,919 602 FHIT 3 60,769,257
603 PTPRG 3 62,219,610 604 CADPS 3 62,747,546
605 CADPS 3 62,780,447 606 CADPS 3 62,828,479
607 CADPS 3 62,838,021 608 CADPS 3 62,838,356
609 CADPS 3 62,846,542 610 CADPS 3 62,851,173
611 SYNPR 3 63,450,516 612 SYNPR 3 63,451,187
613 SYNPR 3 63,505,317 614 PRICKLE2 3 64,159,383
615 PRICKLE2 3 64,159,437 616 PRICKLE2 3 64,184,717
617 PRICKLE2 3 64,186,645 618 MAGIl 3 65,576,514
619 MAGIl 3 65,821,824 620 MAGIl 3 65,836,434
621 MAGIl 3 65,839,896 622 FAM19A1 3 68,075,588
623 FAM19A1 3 68,409,920 624 ROBO2 3 77,392,802
625 ROBO2 3 77,405,024 626 ROBOl 3 78,987,206
627 ROBOl 3 78,987,766 628 ROBOl 3 79,258,557
629 ROBOl 3 79,273,280 630 ROBOl 3 79,280,400
631 ROBOl 3 79,615,785 632 GBEl 3 81,677,271
633 EPHA3 3 89,604,354 634 EPHA6 3 98,039,176
635 CBLB 3 106,905,095 636 CBLB 3 106,947,879 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
637 CBLB 3 106,982,063 638 CBLB 3 107,007,179
639 CBLB 3 107,007,800 640 PLCXD2 3 112,846,428
641 PLCXD2 3 112,878,258 642 PLCXD2 3 112,883,336
643 KALRN 3 125,279,449 644 KALRN 3 125,453,554
645 KALRN 3 125,461,439 646 KALRN 3 125,649,153
647 KALRN 3 125,675,364 648 KALRN 3 125,678,784
649 KALRN 3 125,685,686 650 KALRN 3 125,904,630
651 ZXDC 3 127,661,080 652 ZXDC 3 127,665,610
653 CPNE4 3 132,705,653 654 CPNE4 3 132,886,287
655 CPNE4 3 133,106,102 656 CPNE4 3 133,142,633
657 CPNE4 3 133,145,979 658 EPHBl 3 135,954,344
659 EPHBl 3 136,150,537 660 EPHBl 3 136,150,839
661 EPHBl 3 136,151,449 662 EPHBl 3 136,152,557
663 EPHBl 3 136,153,214 664 EPHBl 3 136,154,213
665 EPHBl 3 136,154,774 666 EPHBl 3 136,154,975
667 EPHBl 3 136,156,084 668 EPHBl 3 136,158,491
669 EPHBl 3 136,166,312 670 EPHBl 3 136,166,631
671 EPHBl 3 136,396,640 672 SPSB4 3 142,238,268
673 SPSB4 3 142,241,400 674 SPSB4 3 142,332,653
675 SERPINIl 3 168,993,166 676 SLC7A14 3 171,664,127
677 SLC7A14 3 171,793,139 678 SLC7A14 3 171,815,650
679 TNIK 3 172,281,618 680 TNIK 3 172,426,406
681 TNIK 3 172,713,965 682 PLDl 3 172,783,931
683 PLDl 3 172,784,300 684 PLDl 3 172,784,760
685 PLDl 3 172,785,096 686 PLDl 3 172,786,345
687 PLDl 3 172,790,287 688 PLDl 3 172,790,551
689 PLDl 3 172,791,538 690 PLDl 3 172,792,846
691 PLDl 3 172,802,921 692 PLDl 3 172,804,008
693 PLDl 3 172,820,931 694 PLDl 3 172,852,470
695 PLDl 3 172,862,868 696 PLDl 3 172,886,817
697 PLDl 3 172,887,172 698 PLDl 3 172,892,297
699 PLDl 3 172,937,882 700 PLDl 3 172,960,647
701 PLDl 3 172,965,677 702 NLGNl 3 175,040,531
703 NLGNl 3 175,046,630 704 NLGNl 3 175,512,036
705 NLGNl 3 175,522,551 706 NLGNl 3 175,541,245
707 HTR3D 3 185,244,358 708 LEPRELl 3 191,232,932
709 LEPRELl 3 191,232,980 710 ILlRAP 3 191,715,994
711 ILlRAP 3 191,716,369 712 ILlRAP 3 191,716,532
713 ILlRAP 3 191,719,452 714 ILlRAP 3 191,721,842
715 ILlRAP 3 191,836,940 716 ILlRAP 3 191,902,235
717 ILlRAP 3 191,914,335 718 CENTB2 3 196,488,549
719 SLC2A9 4 9,525,278 720 SLC2A9 4 9,525,760
721 SLC2A9 4 9,551,057 722 SLC2A9 4 9,596,422
723 SLC2A9 4 9,605,950 724 SLC2A9 4 9,606,822
725 SLC2A9 4 9,611,763 726 LDB2 4 16,086,960
727 LDB2 4 16,088,861 728 LDB2 4 16,104,049
729 LDB2 4 16,197,827 730 LDB2 4 16,207,495
731 LDB2 4 16,390,278 732 LDB2 4 16,399,413
733 LDB2 4 16,410,139 734 LDB2 4 16,417,600
735 KCNIP4 4 20,299,155 736 KCNIP4 4 20,342,368
737 KCNIP4 4 20,364,338 738 KCNIP4 4 20,368,712
739 KCNIP4 4 20,369,781 740 SOD3 4 24,400,244
741 PI4K2B 4 24,837,015 742 KIAA1239 4 37,121,710 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
743 KIAA1239 4 37,161,668 744 UBE2K 4 39,394,605
745 N4BP2 4 39,736,870 746 LIMCHl 4 41,032,178
747 LIMCHl 4 41,183,247 748 LIMCHl 4 41,212,305
749 LIMCHl 4 41,213,350 750 LIMCHl 4 41,213,408
751 LIMCHl 4 41,215,951 752 LIMCHl 4 41,219,683
753 LIMCHl 4 41,221,260 754 LIMCHl 4 41,221,506
755 LIMCHl 4 41,221,779 756 LIMCHl 4 41,223,320
757 LIMCHl 4 41,226,429 758 LIMCHl 4 41,235,876
759 LIMCHl 4 41,306,332 760 LIMCHl 4 41,308,688
761 LIMCHl 4 41,310,447 762 LIMCHl 4 41,314,999
763 LIMCHl 4 41,317,805 764 LIMCHl 4 41,376,499
765 LIMCHl 4 41,394,864 766 LPHN3 4 62,506,258
767 LPHN3 4 62,528,085 768 LPHN3 4 62,708,418
769 LPHN3 4 62,719,919 770 NPFFR2 4 73,122,046
771 NPFFR2 4 73,122,182 772 NPFFR2 4 73,143,891
773 NPFFR2 4 73,145,571 774 NPFFR2 4 73,145,990
775 NPFFR2 4 73,147,681 776 NPFFR2 4 73,153,403
111 NPFFR2 4 73,160,673 778 NPFFR2 4 73,161,337
119 NPFFR2 4 73,199,922 780 NPFFR2 4 73,200,677
781 NPFFR2 4 73,263,574 782 NPFFR2 4 73,283,790
783 NPFFR2 4 73,291,379 784 SCARB2 4 77,296,450
785 SCARB2 4 77,296,499 786 SHROOM3 4 77,850,449
787 SHROOM3 4 77,850,911 788 SHROOM3 4 77,855,667
789 SHROOM3 4 77,859,641 790 SCD5 4 83,785,141
791 GPRIN3 4 90,386,804 792 GPRIN3 4 90,388,948
793 GPRIN3 4 90,399,512 794 GPRIN3 4 90,438,516
795 GPRIN3 4 90,442,126 796 GRID2 4 93,686,509
797 GRID2 4 93,747,063 798 GRID2 4 93,758,555
799 GRID2 4 94,519,182 800 GRID2 4 94,577,046
801 GRID2 4 94,605,786 802 GRID2 4 94,706,340
803 GRID2 4 94,760,264 804 GRID2 4 94,760,609
805 GRID2 4 94,768,297 806 GRID2 4 94,776,578
807 GRID2 4 94,872,717 808 GRID2 4 94,911,369
809 GRID2 4 94,919,018 810 GRID2 4 94,919,599
811 UNC5C 4 96,459,368 812 UNC5C 4 96,604,340
813 UNC5C 4 96,610,041 814 UNC5C 4 96,620,115
815 UNC5C 4 96,624,936 816 UNC5C 4 96,626,563
817 UNC5C 4 96,626,795 818 UNC5C 4 96,633,345
819 UNC5C 4 96,656,785 820 ADHlC 4 100,261,126
821 PPP3CA 4 102,128,589 822 PPP3CA 4 102,143,083
823 PPP3CA 4 102,187,634 824 PPP3CA 4 102,189,271
825 PPP3CA 4 102,198,890 826 PPP3CA 4 102,368,237
827 PAPSSl 4 108,754,784 828 PAPSSl 4 108,829,312
829 PAPSSl 4 108,831,390 830 PAPSSl 4 108,831,450
831 PAPSSl 4 108,834,075 832 PAPSSl 4 108,843,216
833 PAPSSl 4 108,843,960 834 PAPSSl 4 108,855,111
835 COL25A1 4 109,985,739 836 COL25A1 4 109,987,393
837 COL25A1 4 110,067,552 838 COL25A1 4 110,400,686
839 COL25A1 4 110,409,320 840 COL25A1 4 110,413,733
841 COL25A1 4 110,474,589 842 ANK2 4 114,190,823
843 ANK2 4 114,328,632 844 ANK2 4 114,329,042
845 ANK2 4 114,329,441 846 ANK2 4 114,340,609
847 ANK2 4 114,429,212 848 ANK2 4 114;437;446 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
849 CAMK2D 4 114,656,174 850 CAMK2D 4 114,715,574
851 PRSS12 4 119,488,872 852 PRSS12 4 119,498,546
853 PRSS12 4 119,518,526 854 MAML3 4 140,896,430
855 MAML3 4 141,044,880 856 MAML3 4 141,051,231
857 MAML3 4 141,099,379 858 MAML3 4 141,130,298
859 MAML3 4 141,138,533 860 MAML3 4 141,140,107
861 MAML3 4 141,142,480 862 MAML3 4 141,196,186
863 MAML3 4 141,273,298 864 MAML3 4 141,383,990
865 IL15 4 142,737,011 866 INPP4B 4 143,274,371
867 INPP4B 4 143,288,240 868 INPP4B 4 143,292,058
869 INPP4B 4 143,296,851 870 INPP4B 4 143,300,521
871 INPP4B 4 143,314,721 872 INPP4B 4 143,392,444
873 INPP4B 4 143,414,201 874 INPP4B 4 143,421,104
875 INPP4B 4 143,436,841 876 INPP4B 4 143,437,563
877 INPP4B 4 143,508,343 878 INPP4B 4 143,516,488
879 INPP4B 4 143,524,042 880 INPP4B 4 143,547,226
881 INPP4B 4 143,563,055 882 INPP4B 4 143,566,886
883 POU4F2 4 147,726,913 884 POU4F2 4 147,731,368
885 POU4F2 4 147,737,119 886 POU4F2 4 147,739,219
887 POU4F2 4 147,748,659 888 POU4F2 4 147,758,283
889 DCLK2 4 151,204,307 890 DCLK2 4 151,235,111
891 DCLK2 4 151,346,175 892 DCLK2 4 151,366,761
893 CTSO 4 157,073,518 894 CTSO 4 157,090,787
895 CTSO 4 157,091,152 896 CTSO 4 157,092,343
897 FSTL5 4 163,159,232 898 FSTL5 4 163,172,602
899 FSTL5 4 163,198,742 900 FSTL5 4 163,204,852
901 FSTL5 4 163,274,800 902 FSTL5 4 163,275,058
903 FSTL5 4 163,281,294 904 FSTL5 4 163,282,207
905 FSTL5 4 163,306,761 906 FSTL5 4 163,316,993
907 FSTL5 4 163,355,152 908 FSTL5 4 163,369,235
909 FSTL5 4 163,379,495 910 TLLl 4 167,169,368
911 TLLl 4 167,239,774 912 PALLD 4 169,650,759
913 PALLD 4 169,666,940 914 PALLD 4 169,678,372
915 PALLD 4 169,684,095 916 PALLD 4 169,759,910
917 PALLD 4 169,828,987 918 PALLD 4 169,855,143
919 PALLD 4 169,866,028 920 PALLD 4 169,894,890
921 PALLD 4 169,910,404 922 PALLD 4 170,065,920
923 PALLD 4 170,082,830 924 PALLD 4 170,113,748
925 PALLD 4 170,117,820 926 PALLD 4 170,118,492
927 PALLD 4 170,135,598 928 GPM6A 4 176,811,484
929 GPM6A 4 177,178,625 930 ODZ3 4 183,917,599
931 ODZ3 4 183,918,042 932 ODZ3 4 183,918,858
933 ENPP6 4 185,228,598 934 ENPP6 4 185,266,961
935 CASP3 4 185,808,551 936 SLC6A3 5 1,415,793
937 SLC6A3 5 1,480,803 938 SLC6A3 5 1,481,011
939 SLC6A3 5 1,481,514 940 SLC6A3 5 1,496,728
941 SEMA5A 5 9,243,404 942 SEMA5A 5 9,495,994
943 SEMA5A 5 9,611,762 944 SEMA5A 5 9,612,903
945 SEMA5A 5 9,613,249 946 CTNND2 5 11,160,238
947 CTNND2 5 11,207,447 948 CTNND2 5 11,250,495
949 CTNND2 5 11,252,301 950 CTNND2 5 11,271,488
951 CTNND2 5 11,351,223 952 CTNND2 5 11,476,628
953 CTNND2 5 11,478,745 954 CTNND2 5 11,975,555 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
955 CTNND2 5 11,975,628 956 CTNND2 5 11,982,913
957 CTNND2 5 12,002,210 958 CTNND2 5 12,002,315
959 DNAH5 5 13,774,378 960 DNAH5 5 13,957,400
961 DNAH5 5 13,963,535 962 MYOlO 5 16,711,524
963 MYOlO 5 17,022,392 964 BASPl 5 17,264,649
965 BASPl 5 17,266,319 966 BASPl 5 17,266,365
967 CDHlO 5 24,643,409 968 CDHlO 5 24,645,127
969 CDHlO 5 24,674,827 970 C1QTNF3 5 34,051,438
971 C1QTNF3 5 34,054,261 972 C1QTNF3 5 34,058,118
973 C1QTNF3 5 34,091,777 974 SLCl A3 5 36,637,612
975 SLC1A3 5 36,668,160 976 EGFLAM 5 38,301,820
977 EGFLAM 5 38,357,801 978 EGFLAM 5 38,386,400
979 ITGAl 5 52,111,244 980 ITGAl 5 52,114,759
981 ITGAl 5 52,130,669 982 ITGAl 5 52,134,676
983 ITGAl 5 52,185,208 984 ITGAl 5 52,185,286
985 ITGAl 5 52,190,752 986 ITGAl 5 52,285,233
987 ITGAl 5 52,294,108 988 ITGA2 5 52,369,177
989 ITGA2 5 52,376,821 990 ITGA2 5 52,388,971
991 ITGA2 5 52,394,644 992 ITGA2 5 52,394,794
993 ITGA2 5 52,406,189 994 ITGA2 5 52,417,975
995 ITGA2 5 52,418,412 996 ITGA2 5 52,418,682
997 PDE4D 5 58,406,595 998 PDE4D 5 58,429,089
999 PDE4D 5 58,511,874 1000 PDE4D 5 58,669,849
1001 PDE4D 5 58,895,884 1002 PDE4D 5 58,935,951
1003 PDE4D 5 58,937,131 1004 PDE4D 5 58,941,526
1005 ELO VL7 5 60,099,268 1006 ELO VL7 5 60,102,082
1007 ELO VL7 5 60,131,029 1008 ELO VL7 5 60,132,254
1009 ELO VL7 5 60,152,959 1010 ELO VL7 5 60,171,719
1011 ELOVL7 5 60,201,944 1012 PIK3R1 5 67,558,478
1013 PIK3R1 5 67,564,947 1014 MAPlB 5 71,528,490
1015 TNPOl 5 72,201,677 1016 TNPOl 5 72,268,268
1017 FCHO2 5 72,359,464 1018 FCHO2 5 72,382,846
1019 FCHO2 5 72,397,388 1020 FCHO2 5 72,397,906
1021 FCHO2 5 72,401,612 1022 FCHO2 5 72,413,771
1023 FCHO2 5 72,429,851 1024 PDE8B 5 76,535,298
1025 PDE8B 5 76,549,775 1026 PDE8B 5 76,656,410
1027 PDE8B 5 76,659,055 1028 PDE8B 5 76,676,601
1029 PDE8B 5 76,707,804 1030 PDE8B 5 76,712,714
1031 PDE8B 5 76,728,438 1032 PDE8B 5 76,753,826
1033 PDE8B 5 76,761,338 1034 SCAMPI 5 77,716,826
1035 SCAMPI 5 77,744,823 1036 SCAMPI 5 77,754,972
1037 SCAMPI 5 77,755,075 1038 SCAMPI 5 77,775,583
1039 SCAMPI 5 77,780,932 1040 SCAMPI 5 77,781,293
1041 SCAMPI 5 77,804,758 1042 SCAMPI 5 77,818,845
1043 SCAMPI 5 77,822,520 1044 CMY A5 5 79,056,182
1045 CMYA5 5 79,058,467 1046 CMY A5 5 79,060,490
1047 CMYA5 5 79,073,027 1048 CMY A5 5 79,073,240
1049 CMYA5 5 79,074,951 1050 CMY A5 5 79,076,813
1051 CMYA5 5 79,136,873 1052 MEF2C 5 88,039,159
1053 MEF2C 5 88,074,146 1054 MEF2C 5 88,078,052
1055 MEF2C 5 88,090,048 1056 MEF2C 5 88,090,519
1057 MEF2C 5 88,156,944 1058 MEF2C 5 88,159,879
1059 MEF2C 5 88,161,609 1060 MEF2C 5 88,173,798 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
1061 GPR98 5 89,883,625 1062 GPR98 5 89,893,330
1063 GPR98 5 90,010,394 1064 GPR98 5 90,058,163
1065 GPR98 5 90,064,161 1066 GPR98 5 90,071,845
1067 GPR98 5 90,379,334 1068 GPR98 5 90,420,854
1069 GPR98 5 90,428,377 1070 FBXL17 5 107,377,610
1071 FBXL17 5 107,380,193 1072 FBXL17 5 107,381,014
1073 FBXL17 5 107,420,461 1074 FBXL17 5 107,423,133
1075 FBXL17 5 107,428,404 1076 FBXL17 5 107,429,502
1077 FBXL17 5 107,433,375 1078 FBXL17 5 107,522,936
1079 FBXL17 5 107,546,460 1080 FBXL17 5 107,564,803
1081 PJA2 5 108,686,797 1082 PJA2 5 108,694,666
1083 PJA2 5 108,727,060 1084 PJA2 5 108,727,773
1085 PJA2 5 108,758,672 1086 PJA2 5 108,776,974
1087 PJA2 5 108,780,765 1088 PJA2 5 108,781,038
1089 PJA2 5 108,782,510 1090 PJA2 5 108,784,484
1091 PJA2 5 108,787,364 1092 PJA2 5 108,803,710
1093 PJA2 5 108,812,698 1094 KCNN2 5 113,836,032
1095 KCNN2 5 113,836,263 1096 SEMA6A 5 115,855,255
1097 SEMA6A 5 115,855,306 1098 ADAMTS 19 5 128,915,938
1099 ADAMTS 19 5 128,968,517 1100 ADAMTS 19 5 128,968,799
1101 ADAMTS 19 5 128,986,841 1102 ADAMTS 19 5 129,018,892
1103 ADAMTS 19 5 129,019,131 1104 ADAMTS 19 5 129,024,772
1105 ADAMTS 19 5 129,033,634 1106 ADAMTS 19 5 129,034,142
1107 ADAMTS 19 5 129,039,887 1108 ADAMTS 19 5 129,078,440
1109 VDACl 5 133,335,005 1110 VDACl 5 133,355,058
1111 VDACl 5 133,356,459 1112 VDACl 5 133,405,061
1113 TRPC7 5 135,547,908 1114 TRPC7 5 135,551,643
1115 TRPC7 5 135,557,803 1116 TRPC7 5 135,660,209
1117 TRPC7 5 135,674,104 1118 TRPC7 5 135,678,197
1119 TRPC7 5 135,679,839 1120 TRPC7 5 135,680,121
1121 TRPC7 5 135,689,800 1122 TRPC7 5 135,693,248
1123 TRPC7 5 135,708,380 1124 TRPC7 5 135,712,132
1125 TRPC7 5 135,713,994 1126 TRPC7 5 135,724,949
1127 TRPC7 5 135,725,523 1128 TRPC7 5 135,733,573
1129 TRPC7 5 135,734,750 1130 GRIAl 5 152,884,137
1131 GRIAl 5 152,949,087 1132 GRIAl 5 152,956,518
1133 GRIAl 5 153,167,666 1134 ODZ2 5 166,910,625
1135 ODZ2 5 167,105,972 1136 ODZ2 5 167,177,338
1137 ODZ2 5 167,189,249 1138 ODZ2 5 167,313,056
1139 ODZ2 5 167,345,783 1140 ODZ2 5 167,400,913
1141 ODZ2 5 167,601,421 1142 ODZ2 5 167,604,683
1143 ODZ2 5 167,611,516 1144 ODZ2 5 167,634,619
1145 WWCl 5 167,641,813 1146 WWCl 5 167,785,852
1147 WWCl 5 167,818,328 1148 WWCl 5 167,819,115
1149 WWCl 5 167,819,275 1150 WWCl 5 167,820,009
1151 KCNIPl 5 169,709,852 1152 KCNIPl 5 169,709,936
1153 KCNIPl 5 169,710,014 1154 KCNIPl 5 170,021,180
1155 KCNIPl 5 170,078,162 1156 KCNIPl 5 170,095,949
1157 STKlO 5 171,538,167 1158 EXOC2 6 417,807
1159 EXOC2 6 418,248 1160 EXOC2 6 420,154
1161 EXOC2 6 420,810 1162 EXOC2 6 441,555
1163 EXOC2 6 536,765 1164 EXOC2 6 541,042
1165 EXOC2 6 542,871 1166 EXOC2 6 555,542 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
1167 EXOC2 6 559,375 1168 EXOC2 6 577,061
1169 SERPINB 6 6 2,876,878 1170 SERPINB6 6 2,926,223
1171 PHACTRl 6 12,837,251 1172 PHACTRl 6 13,386,732
1173 JARID2 6 15,355,372 1174 JARID2 6 15,499,187
1175 JARID2 6 15,503,960 1176 JARID2 6 15,505,614
1177 JARID2 6 15,512,229 1178 JARID2 6 15,516,507
1179 JARID2 6 15,537,710 1180 JARID2 6 15,545,369
1181 JARID2 6 15,567,913 1182 JARID2 6 15,598,338
1183 ATXNl 6 16,595,223 1184 ATXNl 6 16,595,385
1185 ATXNl 6 16,681,514 1186 ATXNl 6 16,755,137
1187 ATXNl 6 16,762,029 1188 ATXNl 6 16,766,596
1189 ATXNl 6 16,767,074 1190 ATXNl 6 16,767,110
1191 ATXNl 6 16,779,315 1192 ATXNl 6 16,780,739
1193 ATXNl 6 16,791,838 1194 ATXNl 6 16,799,821
1195 ATXNl 6 16,850,744 1196 SLC17A4 6 25,880,026
1197 SLC17A4 6 25,880,618 1198 SLC17A4 6 25,887,371
1199 SLC 17Al 6 25,909,950 1200 SLC17A1 6 25,921,129
1201 SLC 17Al 6 25,926,734 1202 SLC17A1 6 25,928,407
1203 SLC 17Al 6 25,948,464 1204 SLC17A1 6 25,949,101
1205 SLC17A3 6 25,967,533 1206 SLC17A3 6 25,970,445
1207 SLC17A3 6 25,971,584 1208 SLC17A3 6 25,972,877
1209 SLC17A3 6 25,973,245 1210 SLC17A3 6 25,977,827
1211 SLC17A3 6 25,978,521 1212 BTN3A1 6 26,504,182
1213 BTN3A1 6 26,506,534 1214 BTN3A1 6 26,512,353
1215 BTN3A1 6 26,513,243 1216 BTN3A1 6 26,513,969
1217 MSH5 6 31,826,581 1218 MSH5 6 31,838,993
1219 LRFN2 6 40,635,612 1220 LRFN2 6 40,640,871
1221 KLC4 6 43,131,349 1222 PARC 6 43,293,711
1223 TJAPl 6 43,598,787 1224 XPO5 6 43,606,651
1225 XPO5 6 43,621,785 1226 XPO5 6 43,636,419
1227 XPO5 6 43,648,904 1228 TMEM63B 6 44,201,720
1229 ELO VL5 6 53,213,187 1230 ELO VL5 6 53,282,407
1231 ELO VL5 6 53,341,053 1232 ELO VL5 6 53,350,763
1233 ELOVL5 6 53,362,070 1234 RIMSl 6 72,866,546
1235 RIMSl 6 72,932,594 1236 HTRlB 6 78,228,979
1237 HTRlB 6 78,247,981 1238 GABRR2 6 90,031,297
1239 GABRR2 6 90,052,273 1240 TRDN 6 123,681,714
1241 TRDN 6 123,707,645 1242 TRDN 6 123,730,952
1243 TRDN 6 123,731,764 1244 TRDN 6 123,747,133
1245 TRDN 6 123,749,431 1246 TRDN 6 123,753,539
1247 TRDN 6 123,790,942 1248 TRDN 6 123,878,251
1249 TRDN 6 123,963,305 1250 TRDN 6 123,982,387
1251 TRDN 6 123,983,371 1252 TRDN 6 123,983,783
1253 TRDN 6 123,991,308 1254 TRDN 6 123,992,112
1255 TRDN 6 124,006,657 1256 TRDN 6 124,007,196
1257 TRDN 6 124,008,072 1258 TRDN 6 124,011,033
1259 NKAIN2 6 124,074,609 1260 NKAIN2 6 124,085,957
1261 NKAIN2 6 124,977,809 1262 EYA4 6 133,668,941
1263 EYA4 6 133,672,254 1264 EYA4 6 133,678,316
1265 EYA4 6 133,684,611 1266 PDE7B 6 136,337,547
1267 PDE7B 6 136,391,000 1268 PDE7B 6 136,402,540
1269 PDE7B 6 136,472,958 1270 PDE7B 6 136,555,234
1271 PLAGLl 6 144,345,925 1272 PLAGLl 6 144,355,380 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
1273 STXI l 6 144,554,694 1274 UTRN 6 144,943,208
1275 UTRN 6 145,213,578 1276 SYNEl 6 152,534,210
1277 SYNEl 6 152,534,429 1278 SYNEl 6 152,535,158
1279 SYNEl 6 152,535,230 1280 SYNEl 6 152,549,890
1281 SLC22A3 6 160,664,141 1282 SLC22A3 6 160,701,723
1283 PARK2 6 161,894,294 1284 PARK2 6 161,894,946
1285 PACRG 6 163,512,225 1286 PACRG 6 163,523,252
1287 PACRG 6 163,571,731 1288 PACRG 6 163,656,492
1289 PDElOA 6 165,656,576 1290 PDElOA 6 165,657,424
1291 PDElOA 6 165,659,019 1292 PDElOA 6 165,711,808
1293 PDElOA 6 165,865,960 1294 PDElOA 6 165,868,876
1295 SDKl 7 4,133,862 1296 SDKl 7 4,141,415
1297 SDKl 7 4,142,841 1298 NXPHl 7 8,633,152
1299 NXPHl 7 8,633,615 1300 NXPHl 7 8,637,519
1301 NXPHl 7 8,642,990 1302 NXPHl 7 8,647,759
1303 NXPHl 7 8,662,332 1304 NXPHl 7 8,662,442
1305 NXPHl 7 8,758,143 1306 ETVl 7 13,882,768
1307 DGKB 7 14,179,937 1308 DGKB 7 14,181,086
1309 DGKB 7 14,213,223 1310 DGKB 7 14,213,591
1311 DGKB 7 14,557,877 1312 DGKB 7 14,663,822
1313 DGKB 7 14,795,170 1314 DGKB 7 14,816,578
1315 DGKB 7 14,817,686 1316 DGKB 7 14,818,142
1317 TSPANl 3 7 16,770,515 1318 SNX 13 7 17,949,822
1319 SNX13 7 17,950,332 1320 SNX 13 7 17,955,884
1321 STK31 7 23,712,523 1322 STK31 7 23,790,538
1323 STK31 7 23,796,703 1324 STK31 7 23,844,516
1325 STK31 7 23,859,520 1326 SKAP2 7 26,814,684
1327 SKAP2 7 26,825,824 1328 SKAP2 7 26,830,698
1329 SKAP2 7 26,862,761 1330 CREB5 7 28,798,822
1331 CREB5 7 28,808,592 1332 PLEKHA8 7 30,037,069
1333 PLEKHA8 7 30,081,142 1334 CRHR2 7 30,665,429
1335 PDElC 7 31,821,130 1336 PDElC 7 31,822,595
1337 PDElC 7 31,835,138 1338 PDElC 7 31,838,385
1339 PDElC 7 31,841,400 1340 BMPER 7 34,020,913
1341 BMPER 7 34,057,259 1342 BMPER 7 34,067,083
1343 BMPER 7 34,077,746 1344 BMPER 7 34,159,287
1345 EEPDl 7 36,145,203 1346 EEPDl 7 36,235,809
1347 VPS41 7 38,708,501 1348 VPS41 7 38,738,392
1349 VPS41 7 38,750,276 1350 VPS41 7 38,757,077
1351 VPS41 7 38,757,472 1352 VPS41 7 38,759,768
1353 VPS41 7 38,761,292 1354 VPS41 7 38,776,517
1355 VPS41 7 38,784,656 1356 VPS41 7 38,798,095
1357 VPS41 7 38,798,875 1358 VPS41 7 38,800,593
1359 VPS41 7 38,806,116 1360 VPS41 7 38,812,386
1361 VPS41 7 38,820,297 1362 VPS41 7 38,820,469
1363 VPS41 7 38,828,636 1364 VPS41 7 38,836,969
1365 VPS41 7 38,850,065 1366 VPS41 7 38,882,602
1367 VPS41 7 38,925,791 1368 VPS41 7 38,926,367
1369 VPS41 7 38,936,691 1370 IGFBP3 7 45,875,519
1371 IGFBP3 7 45,916,971 1372 IGFBP3 7 46,061,993
1373 ABCA13 7 48,240,607 1374 ABCA13 7 48,245,100
1375 ABCA13 7 48,250,081 1376 ABCA13 7 48,250,147
1377 ABCA13 7 48,253,360 1378 ABCA13 7 48,256,966 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
1379 ABCA13 7 48,261,753 1380 ABCA13 7 48,262,848
1381 ABCA13 7 48,263,650 1382 ABCA13 7 48,275,993
1383 ABCA13 7 48,415,696 1384 ABCA13 7 48,427,057
1385 ABCA13 7 48,537,723 1386 ABCA13 7 48,538,115
1387 ABCA13 7 48,549,904 1388 ABCA13 7 48,551,488
1389 ABCA13 7 48,576,570 1390 ABCA13 7 48,577,426
1391 ABCA13 7 48,642,999 1392 ABCA13 7 48,664,499
1393 GRBlO 7 50,706,645 1394 GRBlO 7 50,706,949
1395 GRBlO 7 50,707,020 1396 GRBlO 7 50,707,082
1397 GRBlO 7 50,712,801 1398 GRBlO 7 50,723,008
1399 GRBlO 7 50,727,714 1400 GRBlO 7 50,735,647
1401 GRBlO 7 50,750,413 1402 GRBlO 7 50,752,942
1403 GRBlO 7 50,753,544 1404 GRBlO 7 50,769,928
1405 GRBlO 7 50,775,527 1406 GRBlO 7 50,775,581
1407 GRBlO 7 50,777,265 1408 GRBlO 7 50,790,805
1409 GRBlO 7 50,791,895 1410 GRBlO 7 50,797,467
1411 GRBlO 7 50,803,980 1412 GRBlO 7 50,807,550
1413 GRBlO 7 50,820,922 1414 GRBlO 7 50,823,003
1415 GRBlO 7 50,823,341 1416 GRBlO 7 50,839,403
1417 GRBlO 7 50,839,923 1418 WBSCR17 7 70,218,616
1419 WBSCR17 7 70,314,044 1420 WB SCRl 7 7 70,765,881
1421 WBSCR17 7 70,771,838 1422 CALNl 7 70,886,612
1423 CALNl 7 70,889,691 1424 CALNl 7 71,180,137
1425 CALNl 7 71,196,919 1426 CALNl 7 71,206,186
1427 CALNl 7 71,212,064 1428 CALNl 7 71,214,046
1429 CALNl 7 71,235,264 1430 CALNl 7 71,235,395
1431 CALNl 7 71,377,109 1432 CALNl 7 71,446,681
1433 CALNl 7 71,464,567 1434 CALNl 7 71,472,868
1435 CALNl 7 71,475,237 1436 CALNl 7 71,505,190
1437 GTF2IRD1 7 73,545,909 1438 MAGI2 7 77,807,229
1439 MAGI2 7 77,811,392 1440 MAGI2 7 77,811,723
1441 MAGI2 7 78,083,120 1442 MAGI2 7 78,087,129
1443 MAGI2 7 78,735,107 1444 MAGI2 7 78,753,565
1445 MAGI2 7 78,817,962 1446 MAGI2 7 78,824,996
1447 MAGI2 7 78,825,573 1448 MAGI2 7 78,829,240
1449 CACNA2D1 7 81,438,378 1450 CACNA2D1 7 81,442,364
1451 PCLO 7 82,393,605 1452 PCLO 7 82,395,097
1453 PCLO 7 82,401,047 1454 PCLO 7 82,401,452
1455 PCLO 7 82,411,459 1456 PCLO 7 82,454,771
1457 PCLO 7 82,650,074 1458 PCLO 7 82,659,120
1459 GRM3 7 86,189,153 1460 GRM3 7 86,254,957
1461 GRM3 7 86,255,781 1462 GRM3 7 86,266,144
1463 ADAM22 7 87,469,462 1464 ADAM22 7 87,539,714
1465 ADAM22 7 87,590,464 1466 PPP1R9A 7 94,589,831
1467 PPP1R9A 7 94,632,721 1468 PPP1R9A 7 94,733,892
1469 PPP1R9A 7 94,734,041 1470 PPP1R9A 7 94,742,812
1471 PPP1R9A 7 94,746,827 1472 PPP1R9A 7 94,747,431
1473 PPP1R9A 7 94,747,598 1474 PPP1R9A 7 94,748,184
1475 PPP1R9A 7 94,750,340 1476 DYNClIl 7 95,258,613
1477 DYNClIl 7 95,325,994 1478 DYNClIl 7 95,336,462
1479 DYNClIl 7 95,386,677 1480 ZNF3 7 99,429,354
1481 ZNF3 7 99,480,681 1482 EMID2 7 100,868,518
1483 EMID2 7 100,878,190 1484 CUXl 7 101,700,855 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
1485 CUXl 7 101,712,058 1486 CUXl 7 101,758,636
1487 NRCAM 7 107,585,096 1488 NRCAM 7 107,587,783
1489 NRCAM 7 107,588,905 1490 NRCAM 7 107,598,938
1491 NRCAM 7 107,621,970 1492 NRCAM 7 107,626,668
1493 NRCAM 7 107,628,207 1494 NRCAM 7 107,654,504
1495 NRCAM 7 107,657,867 1496 NRCAM 7 107,731,054
1497 KCND2 7 119,693,426 1498 KCND2 7 119,956,552
1499 KCND2 7 119,967,907 1500 KCND2 7 120,089,523
1501 CADPS2 7 121,760,839 1502 CADPS2 7 121,767,778
1503 CADPS2 7 121,805,395 1504 CADPS2 7 122,314,434
1505 SLC13A1 7 122,533,104 1506 SLC13A1 7 122,557,321
1507 SLC13A1 7 122,560,268 1508 SLC13A1 7 122,590,060
1509 SLC13A1 7 122,594,916 1510 SLC13A1 7 122,595,280
1511 SLC13A1 7 122,596,347 1512 GRM8 7 125,866,380
1513 GRM8 7 125,872,156 1514 GRM8 7 125,880,817
1515 GRM8 7 125,918,108 1516 GRM8 7 125,923,221
1517 GRM8 7 125,938,463 1518 GRM8 7 125,940,799
1519 GRM8 7 125,941,472 1520 GRM8 7 125,959,757
1521 GRM8 7 125,979,607 1522 GRM8 7 126,435,292
1523 GRM8 7 126,436,133 1524 GRM8 7 126,444,781
1525 GRM8 7 126,483,848 1526 GRM8 7 126,499,299
1527 GRM8 7 126,499,423 1528 GRM8 7 126,504,393
1529 GRM8 7 126,521,407 1530 GRM8 7 126,581,967
1531 GRM8 7 126,624,857 1532 DGKI 7 136,749,535
1533 DGKI 7 136,757,487 1534 DGKI 7 136,769,973
1535 DGKI 7 136,780,737 1536 DGKI 7 136,782,783
1537 DGKI 7 136,787,596 1538 DGKI 7 136,885,223
1539 DGKI 7 136,888,628 1540 DGKI 7 136,888,749
1541 CREB3L2 7 137,203,650 1542 CREB3L2 7 137,211,237
1543 CREB3L2 7 137,342,248 1544 CREB3L2 7 137,343,428
1545 TBXASl 7 139,342,717 1546 TBXASl 7 139,369,869
1547 CNTNAP2 7 146,670,511 1548 CNTNAP2 7 146,671,711
1549 CNTNAP2 7 146,671,930 1550 CNTNAP2 7 146,673,648
1551 CNTNAP2 7 146,706,249 1552 CNTNAP2 7 146,723,973
1553 CNTNAP2 7 146,724,262 1554 CNTNAP2 7 146,782,515
1555 CNTNAP2 7 146,786,412 1556 CNTNAP2 7 146,786,448
1557 CNTNAP2 7 146,788,290 1558 CNTNAP2 7 146,791,664
1559 CNTNAP2 7 146,791,891 1560 CNTNAP2 7 146,792,055
1561 CNTNAP2 7 146,792,712 1562 CNTNAP2 7 146,794,158
1563 CNTNAP2 7 146,795,212 1564 CNTNAP2 7 146,795,377
1565 CNTNAP2 7 146,795,593 1566 CNTNAP2 7 146,798,866
1567 CNTNAP2 7 146,800,067 1568 CNTNAP2 7 146,800,208
1569 CNTNAP2 7 146,816,270 1570 CNTNAP2 7 146,816,456
1571 CNTNAP2 7 147,067,210 1572 CNTNAP2 7 147,088,310
1573 CNTNAP2 7 147,748,379 1574 ACCN3 7 150,382,999
1575 DPP6 7 154,100,079 1576 DPP6 7 154,132,604
1577 DPP6 7 154,143,043 1578 HTR5A 7 154,513,733
1579 HTR5A 7 154,518,336 1580 PTPRN2 7 157,055,372
1581 PTPRN2 7 157,060,284 1582 PTPRN2 7 157,062,744
1583 PTPRN2 7 157,509,808 1584 PTPRN2 7 157,519,106
1585 PTPRN2 7 157,647,665 1586 CSMDl 8 2,793,553
1587 CSMDl 8 2,795,939 1588 CSMDl 8 3,202,280
1589 CSMDl 8 3,202,904 1590 CSMDl 8 3,218,544 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
1591 CSMDl 8 3,228,881 1592 CSMDl 8 3,242,988
1593 CSMDl 8 3,245,103 1594 CSMDl 8 3,246,122
1595 CSMDl 8 3,248,205 1596 CSMDl 8 3,252,146
1597 MCPHl 8 6,305,755 1598 MCPHl 8 6,355,722
1599 MCPHl 8 6,357,338 1600 MCPHl 8 6,362,452
1601 MCPHl 8 6,383,317 1602 MCPHl 8 6,384,278
1603 MCPHl 8 6,384,838 1604 MCPHl 8 6,402,090
1605 MCPHl 8 6,407,942 1606 MCPHl 8 6,407,982
1607 MCPHl 8 6,414,463 1608 MCPHl 8 6,480,594
1609 ANGPT2 8 6,522,454 1610 DLCl 8 13,033,085
1611 SGCZ 8 14,292,030 1612 SGCZ 8 14,297,725
1613 SGCZ 8 14,303,019 1614 SGCZ 8 14,567,685
1615 SGCZ 8 14,594,527 1616 SGCZ 8 14,594,583
1617 SGCZ 8 14,603,034 1618 SGCZ 8 14,619,388
1619 SLC7A2 8 17,456,102 1620 SLC7A2 8 17,480,172
1621 PSD3 8 18,467,203 1622 PSD3 8 18,469,732
1623 PSD3 8 18,708,574 1624 PSD3 8 18,709,420
1625 PSD3 8 18,819,182 1626 ATP6V1B2 8 20,110,329
1627 ATP6V1B2 8 20,116,050 1628 XPO7 8 21,934,553
1629 PPP3CC 8 22,390,555 1630 PPP3CC 8 22,391,033
1631 PPP3CC 8 22,416,883 1632 PPP3CC 8 22,417,197
1633 PPP3CC 8 22,421,890 1634 PPP3CC 8 22,438,725
1635 PPP3CC 8 22,451,254 1636 PPP3CC 8 22,451,454
1637 PEBP4 8 22,872,629 1638 SLC25A37 8 23,454,180
1639 SLC25A37 8 23,479,642 1640 SLC25A37 8 23,487,137
1641 SLC25A37 8 23,490,677 1642 UNC5D 8 35,523,511
1643 UNC5D 8 35,531,300 1644 UNC5D 8 35,534,179
1645 UNC5D 8 35,534,272 1646 UNC5D 8 35,543,336
1647 UNC5D 8 35,855,073 1648 UNC5D 8 36,042,355
1649 UNC5D 8 36,055,367 1650 SFRPl 8 41,221,920
1651 SFRPl 8 41,238,711 1652 SFRPl 8 41,254,926
1653 PRKDC 8 48,805,431 1654 PRKDC 8 49,014,881
1655 SNTGl 8 50,990,529 1656 SNTGl 8 50,990,561
1657 SNTGl 8 50,996,988 1658 SNTGl 8 51,010,187
1659 SNTGl 8 51,028,383 1660 SNTGl 8 51,035,846
1661 SNTGl 8 51,042,787 1662 SNTGl 8 51,049,706
1663 SNTGl 8 51,054,533 1664 SNTGl 8 51,058,990
1665 SNTGl 8 51,082,766 1666 SNTGl 8 51,102,449
1667 SNTGl 8 51,173,297 1668 SNTGl 8 51,234,295
1669 SNTGl 8 51,235,510 1670 SNTGl 8 51,320,466
1671 SNTGl 8 51,527,844 1672 SNTGl 8 51,542,530
1673 LYN 8 56,942,219 1674 LYN 8 57,038,773
1675 LYN 8 57,039,144 1676 LYN 8 57,039,314
1677 LYN 8 57,045,025 1678 LYN 8 57,068,622
1679 TOX 8 59,968,292 1680 TOX 8 60,006,808
1681 NKAIN3 8 63,276,675 1682 NKAIN3 8 63,524,869
1683 NKAIN3 8 63,553,374 1684 NKAIN3 8 63,555,581
1685 NKAIN3 8 63,588,448 1686 NKAIN3 8 63,644,314
1687 NKAIN3 8 64,033,212 1688 NKAIN3 8 64,033,505
1689 DEPDC2 8 69,166,435 1690 DEPDC2 8 69,176,632
1691 DEPDC2 8 69,177,796 1692 KCNB2 8 73,754,111
1693 KCNB2 8 73,756,664 1694 KCNB2 8 73,762,984
1695 KCNB2 8 73,771,914 1696 KCNB2 8 73,776,211 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
1697 KCNB2 8 73,780,154 1698 KCNB2 8 73,783,806
1699 KCNB2 8 73,798,241 1700 KCNB2 8 73,799,263
1701 KCNB2 8 73,811,601 1702 KCNB2 8 73,818,016
1703 KCNB2 8 73,901,806 1704 KCNB2 8 73,905,902
1705 KCNB2 8 73,906,242 1706 KCNB2 8 73,906,305
1707 KCNB2 8 74,001,540 1708 KCNB2 8 74,006,869
1709 MMP 16 8 89,115,235 1710 MMP 16 8 89,379,684
1711 MMP 16 8 89,413,738 1712 MMP 16 8 89,414,303
1713 MMP 16 8 89,421,430 1714 GRHL2 8 102,684,162
1715 GRHL2 8 102,689,866 1716 GRHL2 8 102,701,749
1717 GRHL2 8 102,702,489 1718 GRHL2 8 102,718,857
1719 GRHL2 8 102,736,242 1720 GRHL2 8 102,744,463
1721 GRHL2 8 102,746,981 1722 GRHL2 8 102,749,085
1723 GRHL2 8 102,759,164 1724 NCALD 8 102,769,504
1725 NCALD 8 102,781,373 1726 NCALD 8 102,801,328
1727 NCALD 8 102,812,988 1728 NCALD 8 102,815,103
1729 NCALD 8 102,815,612 1730 ZFPM2 8 106,488,701
1731 ZFPM2 8 106,488,930 1732 ZFPM2 8 106,489,004
1733 ZFPM2 8 106,497,198 1734 ZFPM2 8 106,499,852
1735 ZFPM2 8 106,505,157 1736 ZFPM2 8 106,507,154
1737 ZFPM2 8 106,507,756 1738 ZFPM2 8 106,521,287
1739 ZFPM2 8 106,530,047 1740 ZFPM2 8 106,688,431
1741 ZFPM2 8 106,888,057 1742 CSMD3 8 113,274,947
1743 CSMD3 8 113,288,783 1744 CSMD3 8 113,335,045
1745 CSMD3 8 113,337,274 1746 CSMD3 8 113,338,203
1747 CSMD3 8 113,352,390 1748 CSMD3 8 113,373,346
1749 CSMD3 8 113,387,234 1750 CSMD3 8 113,443,580
1751 CSMD3 8 113,443,849 1752 CSMD3 8 113,445,071
1753 CSMD3 8 113,449,291 1754 CSMD3 8 113,451,969
1755 CSMD3 8 113,452,014 1756 CSMD3 8 113,452,239
1757 CSMD3 8 113,469,659 1758 CSMD3 8 113,470,832
1759 CSMD3 8 113,473,493 1760 CSMD3 8 113,474,100
1761 CSMD3 8 113,539,247 1762 CSMD3 8 113,554,111
1763 CSMD3 8 114,099,667 1764 CSMD3 8 114,104,594
1765 CSMD3 8 114,526,293 1766 SAMD 12 8 119,448,826
1767 SAMD 12 8 119,517,329 1768 FBXO32 8 124,585,035
1769 FERl L6 8 124,966,104 1770 FER1L6 8 124,991,846
1771 FERl L6 8 124,996,892 1772 FER1L6 8 124,997,443
1773 FERl L6 8 125,002,201 1774 FER1L6 8 125,010,633
1775 FERl L6 8 125,011,048 1776 FER1L6 8 125,015,766
1777 FERl L6 8 125,053,616 1778 MTSSl 8 125,688,384
1779 MTSSl 8 125,690,229 1780 MTSSl 8 125,708,636
1781 MTSSl 8 125,771,942 1782 MTSSl 8 125,793,473
1783 MTSSl 8 125,952,323 1784 MTSSl 8 125,954,015
1785 DDEFl 8 131,325,860 1786 ADCY8 8 132,056,557
1787 ADCY8 8 132,057,744 1788 ADCY8 8 132,057,791
1789 COL22A1 8 139,662,848 1790 COL22A1 8 139,662,978
1791 COL22A1 8 139,743,805 1792 COL22A1 8 139,888,333
1793 COL22A1 8 139,890,241 1794 COL22A1 8 139,892,274
1795 COL22A1 8 139,892,385 1796 COL22A1 8 139,895,678
1797 COL22A1 8 139,908,094 1798 COL22A1 8 139,972,905
1799 COL22A1 8 139,975,270 1800 COL22A1 8 139,976,026
1801 KCNK9 8 140,740,112 1802 PTP4A3 8 142,469,282 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
1803 SMARCA2 9 2,063,292 1804 SMARCA2 9 2,084,908
1805 SMARCA2 9 2,113,639 1806 SMARCA2 9 2,118,165
1807 SMARCA2 9 2,170,694 1808 SMARCA2 9 2,176,460
1809 SMARCA2 9 2,181,725 1810 SLClAl 9 4,452,265
1811 SLClAl 9 4,483,526 1812 SLClAl 9 4,572,082
1813 SLClAl 9 4,588,748 1814 PTPRD 9 8,415,422
1815 ADAMTSLl 9 18,718,689 1816 ASAH3L 9 19,438,473
1817 KIAA1797 9 20,682,438 1818 KIAA1797 9 20,686,043
1819 KIAA1797 9 20,725,284 1820 KIAA1797 9 20,730,433
1821 KIAA1797 9 20,732,210 1822 KIAA1797 9 20,753,840
1823 KIAA1797 9 20,754,870 1824 KIAA1797 9 20,833,841
1825 KIAA1797 9 20,872,525 1826 KIAA1797 9 20,873,199
1827 KIAA1797 9 20,873,713 1828 KIAA1797 9 20,882,952
1829 KIAA1797 9 20,989,646 1830 IFT74 9 26,935,976
1831 IFT74 9 26,936,249 1832 IFT74 9 26,999,738
1833 IFT74 9 27,022,385 1834 IFT74 9 27,031,676
1835 IFT74 9 27,056,070 1836 IFT74 9 27,063,650
1837 TEK 9 27,065,883 1838 TEK 9 27,142,292
1839 PIP5K1B 9 70,643,121 1840 PIP5K1B 9 70,647,996
1841 PIP5K1B 9 70,673,848 1842 PIP5K1B 9 70,687,329
1843 PIP5K1B 9 70,691,508 1844 PIP5K1B 9 70,700,570
1845 PIP5K1B 9 70,814,515 1846 MAMDC2 9 71,887,859
1847 MAMDC2 9 71,896,167 1848 MAMDC2 9 71,913,927
1849 MAMDC2 9 71,917,647 1850 MAMDC2 9 71,998,782
1851 TRPM3 9 72,637,875 1852 TRPM3 9 72,644,103
1853 TRPM3 9 72,648,924 1854 TRPM3 9 72,649,911
1855 TRPM3 9 72,652,604 1856 TRPM3 9 72,662,180
1857 TMCl 9 74,317,350 1858 TMCl 9 74,317,363
1859 TMCl 9 74,317,668 1860 TMCl 9 74,320,797
1861 TMCl 9 74,401,423 1862 TMCl 9 74,503,133
1863 TMCl 9 74,507,002 1864 TMCl 9 74,507,694
1865 TMCl 9 74,531,851 1866 TMCl 9 74,537,387
1867 TMCl 9 74,610,051 1868 TMCl 9 74,686,641
1869 TRPM6 9 76,540,404 1870 TRPM6 9 76,543,120
1871 TRPM6 9 76,566,467 1872 TRPM6 9 76,567,230
1873 TRPM6 9 76,570,941 1874 GNAQ 9 79,481,827
1875 GNAQ 9 79,483,477 1876 GNAQ 9 79,494,080
1877 GNAQ 9 79,517,988 1878 GNAQ 9 79,536,340
1879 GNAQ 9 79,827,513 1880 GNAQ 9 79,845,641
1881 GNAQ 9 79,868,777 1882 GNAQ 9 79,874,660
1883 GNAQ 9 79,878,161 1884 NTRK2 9 86,457,519
1885 NTRK2 9 86,464,568 1886 NTRK2 9 86,472,347
1887 NTRK2 9 86,479,100 1888 NTRK2 9 86,542,608
1889 NTRK2 9 86,553,021 1890 NTRK2 9 86,571,296
1891 NTRK2 9 86,573,597 1892 NTRK2 9 86,577,727
1893 NTRK2 9 86,579,987 1894 NTRK2 9 86,598,770
1895 NTRK2 9 86,598,798 1896 NTRK2 9 86,625,557
1897 NTRK2 9 86,631,295 1898 NTRK2 9 86,635,476
1899 DAPKl 9 89,446,457 1900 DAPKl 9 89,466,486
1901 DAPKl 9 89,518,960 1902 SHC3 9 90,813,631
1903 SHC3 9 90,829,608 1904 SHC3 9 90,846,224
1905 DIRAS2 9 92,391,092 1906 DIRAS2 9 92,432,152
1907 DIRAS2 9 92,432,978 1908 DIRAS2 9 92,453,078 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
1909 NFIL3 9 93,283,388 1910 ZNF 169 9 96,065,119
1911 GABBR2 9 100,075,165 1912 GABBR2 9 100,094,975
1913 GABBR2 9 100,101,460 1914 GABBR2 9 100,102,891
1915 GRIN3A 9 103,379,633 1916 GRIN3A 9 103,429,073
1917 GRIN3A 9 103,440,380 1918 GRIN3A 9 103,457,375
1919 GRIN3A 9 103,467,085 1920 GRIN3A 9 103,467,403
1921 GRIN3A 9 103,468,661 1922 GRIN3A 9 103,476,464
1923 GRIN3A 9 103,481,593 1924 GRIN3A 9 103,491,159
1925 GRIN3A 9 103,516,083 1926 GRIN3A 9 103,520,656
1927 GRIN3A 9 103,535,011 1928 GRIN3A 9 103,578,372
1929 FKTN 9 107,361,938 1930 FKTN 9 107,409,195
1931 FKTN 9 107,435,753 1932 PALM2 9 111,481,826
1933 PALM2 9 111,488,202 1934 PALM2 9 111,560,947
1935 PALM2 9 111,561,356 1936 PALM2 9 111,561,384
1937 PALM2 9 111,975,567 1938 SVEPlA 9 112,294,525
1939 SVEPlA 9 112,396,284 1940 MUSK 9 112,443,667
1941 MUSK 9 112,562,853 1942 MUSK 9 112,600,135
1943 MUSK 9 112,615,167 1944 RGS3 9 115,354,739
1945 RGS3 9 115,368,771 1946 ZNF618 9 115,840,427
1947 DFNB31 9 116,203,827 1948 DFNB31 9 116,210,131
1949 DFNB31 9 116,216,770 1950 DFNB31 9 116,219,043
1951 DFNB31 9 116,221,058 1952 DFNB31 9 116,222,299
1953 DFNB31 9 116,222,970 1954 DFNB31 9 116,229,014
1955 DFNB31 9 116,250,139 1956 DFNB31 9 116,287,408
1957 DFNB31 9 116,290,214 1958 DFNB31 9 116,312,260
1959 DFNB31 9 116,327,990 1960 DFNB31 9 116,345,761
1961 PAPPA 9 118,151,091 1962 PAPPA 9 118,185,562
1963 PAPPA 9 118,198,635 1964 PAPPA 9 118,211,325
1965 ASTN2 9 118,293,293 1966 ASTN2 9 118,298,008
1967 ASTN2 9 118,300,987 1968 ASTN2 9 118,342,138
1969 ASTN2 9 118,421,106 1970 ASTN2 9 118,443,189
1971 ASTN2 9 118,446,482 1972 ASTN2 9 π 8,449,459
1973 ASTN2 9 118,450,577 1974 ASTN2 9 118,493,276
1975 ASTN2 9 118,514,893 1976 ASTN2 9 118,750,592
1977 ASTN2 9 118,752,154 1978 ASTN2 9 118,767,325
1979 ASTN2 9 118,767,524 1980 ASTN2 9 118,780,289
1981 ASTN2 9 118,782,752 1982 ASTN2 9 118,783,350
1983 ASTN2 9 118,786,221 1984 ASTN2 9 118,898,790
1985 ASTN2 9 118,900,774 1986 ASTN2 9 119,192,376
1987 ASTN2 9 119,198,404 1988 ASTN2 9 119,233,626
1989 CDK5RAP2 9 122,266,946 1990 CDK5RAP2 9 122,315,206
1991 CDK5RAP2 9 122,377,819 1992 RAB14 9 122,976,150
1993 GSN 9 123,122,996 1994 GSN 9 123,123,769
1995 GSN 9 123,135,092 1996 GSN 9 123,138,356
1997 TTLLI l 9 123,780,890 1998 TTLLI l 9 123,839,061
1999 TTLLI l 9 123,904,206 2000 TTLLI l 9 123,908,883
2001 LHX6 9 123,995,743 2002 DENNDlA 9 125,236,746
2003 DENNDlA 9 125,237,968 2004 DENNDlA 9 125,259,527
2005 DENNDlA 9 125,273,650 2006 DENNDlA 9 125,274,235
2007 DENNDlA 9 125,278,391 2008 DENNDlA 9 125,391,244
2009 DENNDlA 9 125,406,711 2010 DENNDlA 9 125,457,338
2011 DENNDlA 9 125,677,182 2012 DENNDlA 9 125,701,433
2013 DENNDlA 9 125,714,335 2014 NEK6 9 126,050,083 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
2015 NEK6 9 126,050,327 2016 NEK6 9 126,050,695
2017 NEK6 9 126,129,943 2018 ABLl 9 132,590,178
2019 ABLl 9 132,601,560 2020 ABLl 9 132,603,386
2021 ABLl 9 132,607,062 2022 ABLl 9 132,610,819
2023 ABLl 9 132,611,325 2024 ABLl 9 132,611,594
2025 ABLl 9 132,613,270 2026 ABLl 9 132,625,367
2027 ABLl 9 132,690,607 2028 TSCl 9 134,739,894
2029 TSCl 9 134,765,855 2030 TSCl 9 134,773,990
2031 TSCl 9 134,802,822 2032 VAV2 9 135,614,363
2033 VAV2 9 135,655,129 2034 VAV2 9 135,722,588
2035 VAV2 9 135,725,041 2036 VAV2 9 135,726,939
2037 VAV2 9 135,737,060 2038 KCNTl 9 137,739,699
2039 INPP5E 9 138,461,433 2040 NOTCHl 9 138,521,325
2041 NOTCHl 9 138,546,887 2042 CACNAlB 9 140,019,421
2043 CACNAlB 9 140,019,503 2044 CACNAlB 9 140,031,491
2045 CACNAlB 9 140,040,905 2046 CACNAlB 9 140,106,414
2047 CACNAlB 9 140,131,345 2048 PITRMl 10 3,163,364
2049 PITRMl 10 3,173,747 2050 PRKCQ 10 7,132,955
2051 CACNB2 10 18,589,647 2052 CACNB2 10 18,751,294
2053 CACNB2 10 18,819,330 2054 CACNB2 10 18,829,273
2055 CACNB2 10 18,830,509 2056 CACNB2 10 18,830,733
2057 CACNB2 10 18,838,209 2058 CACNB2 10 18,839,230
2059 CACNB2 10 18,839,896 2060 CACNB2 10 18,847,063
2061 CACNB2 10 18,861,080 2062 CACNB2 10 18,862,348
2063 ARMC3 10 23,233,970 2064 ARMC3 10 23,277,574
2065 ARMC3 10 23,314,154 2066 MY03A 10 26,222,334
2067 MY03A 10 26,256,474 2068 MY03A 10 26,352,830
2069 MY03A 10 26,353,343 2070 MY03A 10 26,383,203
2071 MY03A 10 26,385,264 2072 MY03A 10 26,419,059
2073 MY03A 10 26,447,414 2074 MY03A 10 26,493,174
2075 MY03A 10 26,504,528 2076 SLC 18 A3 10 50,438,238
2077 SLC 18 A3 10 50,491,249 2078 PRKGl 10 52,459,361
2079 PRKGl 10 52,577,528 2080 PRKGl 10 52,585,849
2081 PRKGl 10 52,585,942 2082 PRKGl 10 52,586,179
2083 PRKGl 10 52,619,168 2084 PRKGl 10 52,869,416
2085 PRKGl 10 52,901,690 2086 PRKGl 10 52,904,054
2087 PRKGl 10 53,550,571 2088 PRKGl 10 53,562,357
2089 PCDHl 5 10 55,284,858 2090 PCDHl 5 10 55,334,011
2091 PCDHl 5 10 55,468,894 2092 PCDHl 5 10 55,502,506
2093 PCDHl 5 10 55,631,926 2094 PCDHl 5 10 55,633,952
2095 PCDHl 5 10 55,635,312 2096 PCDHl 5 10 55,636,727
2097 PCDHl 5 10 55,639,211 2098 PCDHl 5 10 55,639,890
2099 PCDHl 5 10 55,639,938 2100 PCDHl 5 10 55,709,225
2101 PCDHl 5 10 55,743,087 2102 PCDHl 5 10 55,746,766
2103 PCDHl 5 10 55,759,269 2104 PCDHl 5 10 55,806,859
2105 PCDHl 5 10 55,817,364 2106 PCDHl 5 10 56,237,672
2107 PCDHl 5 10 56,285,230 2108 PCDHl 5 10 56,287,963
2109 PCDHl 5 10 56,288,058 2110 PCDHl 5 10 56,873,024
2111 PCDHl 5 10 56,960,734 2112 PCDHl 5 10 57,003,485
2113 PCDHl 5 10 57,005,770 2114 ANK3 10 61,466,096
2115 ANK3 10 61,490,495 2116 ANK3 10 61,569,339
2117 ANK3 10 61,585,961 2118 ANK3 10 61,594,867
2119 ANK3 10 61,740,656 2120 ANK3 10 61,746,842 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
2121 JMJDlC 10 64,618,690 2122 JMJDlC 10 64,732,014
2123 JMJDlC 10 64,736,192 2124 JMJDlC 10 64,761,165
2125 JMJDlC 10 64,771,213 2126 JMJDlC 10 64,778,162
2127 CTNNA3 10 67,462,579 2128 CTNNA3 10 67,487,829
2129 CTNNA3 10 67,515,886 2130 CTNNA3 10 67,516,561
2131 CTNNA3 10 67,564,825 2132 CTNNA3 10 67,577,247
2133 CTNNA3 10 67,595,330 2134 CTNNA3 10 67,634,469
2135 CTNNA3 10 67,637,097 2136 CTNNA3 10 67,695,250
2137 CTNNA3 10 67,698,152 2138 CTNNA3 10 67,713,848
2139 CTNNA3 10 67,725,533 2140 CTNNA3 10 68,131,872
2141 CTNNA3 10 68,283,754 2142 CTNNA3 10 68,283,801
2143 CTNNA3 10 68,285,636 2144 CTNNA3 10 68,506,311
2145 CTNNA3 10 68,600,561 2146 CTNNA3 10 68,609,647
2147 CTNNA3 10 68,611,041 2148 CTNNA3 10 68,617,000
2149 CTNNA3 10 68,622,864 2150 CTNNA3 10 68,626,505
2151 CTNNA3 10 68,628,119 2152 CTNNA3 10 68,628,572
2153 CTNNA3 10 68,631,498 2154 CTNNA3 10 68,742,873
2155 CTNNA3 10 68,750,082 2156 CTNNA3 10 69,048,122
2157 CTNNA3 10 69,088,276 2158 CTNNA3 10 69,106,914
2159 CTNNA3 10 69,118,295 2160 CTNNA3 10 69,123,347
2161 CTNNA3 10 69,163,784 2162 CTNNA3 10 69,193,368
2163 CDH23 10 73,076,605 2164 KCNMAl 10 78,232,825
2165 KCNMAl 10 78,258,751 2166 KCNMAl 10 78,259,743
2167 KCNMAl 10 78,286,204 2168 KCNMAl 10 78,297,136
2169 KCNMAl 10 78,299,801 2170 KCNMAl 10 78,300,503
2171 KCNMAl 10 78,358,158 2172 KCNMAl 10 78,372,877
2173 KCNMAl 10 78,426,444 2174 KCNMAl 10 78,426,609
2175 KCNMAl 10 78,446,565 2176 KCNMAl 10 78,447,710
2177 KCNMAl 10 78,587,494 2178 KCNMAl 10 78,598,169
2179 KCNMAl 10 78,865,698 2180 KCNMAl 10 78,865,774
2181 KCNMAl 10 78,872,456 2182 KCNMAl 10 79,086,473
2183 NRG3 10 83,532,551 2184 NRG3 10 83,626,423
2185 NRG3 10 84,141,992 2186 NRG3 10 84,195,058
2187 NRG3 10 84,604,364 2188 NRG3 10 84,616,939
2189 SORBSl 10 97,061,998 2190 SORBSl 10 97,097,088
2191 SORBSl 10 97,111,958 2192 SORBSl 10 97,112,231
2193 SORBSl 10 97,136,438 2194 SORBSl 10 97,214,150
2195 SORBSl 10 97,313,525 2196 PIK3AP1 10 98,343,203
2197 PIK3AP1 10 98,361,738 2198 PIK3AP1 10 98,368,240
2199 PIK3AP1 10 98,370,534 2200 PIK3AP1 10 98,468,439
2201 SLITl 10 98,840,790 2202 SLITl 10 98,868,371
2203 SLITl 10 98,923,843 2204 SLITl 10 98,956,872
2205 SLITl 10 98,961,015 2206 SORCS3 10 106,355,057
2207 S0RCS3 10 106,371,034 2208 SORCS3 10 106,511,862
2209 S0RCS3 10 106,518,456 2210 SORCS3 10 106,543,829
2211 S0RCS3 10 106,546,794 2212 SORCS3 10 106,586,272
2213 S0RCS3 10 106,618,988 2214 SORCS3 10 106,622,111
2215 S0RCS3 10 106,703,623 2216 SORCS3 10 106,934,094
2217 S0RCS3 10 107,025,958 2218 VTIlA 10 114,226,855
2219 VTIlA 10 114,228,361 2220 ATRNLl 10 116,937,138
2221 ATRNLl 10 117,018,254 2222 ATRNLl 10 117,193,379
2223 ATRNLl 10 117,251,493 2224 ATRNLl 10 117,257,300
2225 ATRNLl 10 117,261,885 2226 ATRNLl 10 117,267,663 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
2227 ATRNLl 10 117,280,076 2228 ATRNLl 10 117,301,088
2229 ATRNLl 10 117,305,474 2230 ATRNLl 10 117,329,513
2231 ATRNLl 10 117,341,209 2232 ATRNLl 10 117,341,891
2233 ATRNLl 10 117,342,514 2234 ATRNLl 10 117,348,909
2235 ATRNLl 10 117,348,932 2236 ATRNLl 10 117,350,294
2237 ATRNLl 10 117,352,824 2238 ATRNLl 10 117,385,627
2239 ATRNLl 10 117,404,353 2240 ATRNLl 10 117,628,480
2241 HSPA12A 10 118,434,753 2242 HSPA12A 10 118,437,365
2243 HSPA12A 10 118,438,068 2244 NANOSl 10 120,811,615
2245 GRK5 10 121,222,444 2246 ATEl 10 123,421,505
2247 ATEl 10 123,426,686 2248 ATEl 10 123,427,197
2249 ATEl 10 123,427,443 2250 ATEl 10 123,428,103
2251 ATEl 10 123,432,831 2252 ATEl 10 123,453,723
2253 ATEl 10 123,484,634 2254 ATEl 10 123,573,965
2255 ATEl 10 123,614,295 2256 ATEl 10 123,615,180
2257 ATEl 10 123,627,690 2258 ATEl 10 123,630,511
2259 ATEl 10 123,634,335 2260 ATEl 10 123,648,119
2261 ATEl 10 123,659,245 2262 ATEl 10 123,666,737
2263 ATEl 10 123,669,674 2264 EBF3 10 131,490,856
2265 EBF3 10 131,645,661 2266 EBF3 10 131,740,881
2267 DEAFl 11 723,609 2268 CENDl 11 762,982
2269 CENDl 11 830,034 2270 HCCA2 11 1,451,351
2271 HCCA2 11 1,455,660 2272 HCCA2 11 1,476,557
2273 HCCA2 11 1,489,585 2274 DUSP8 11 1,494,093
2275 DUSP8 11 1,501,758 2276 DUSP8 11 1,501,827
2277 DUSP8 11 1,563,922 2278 STIMl 11 3,931,164
2279 TRIM21 11 4,352,761 2280 TRIM21 11 4,365,143
2281 GALNTL4 11 11,215,705 2282 GALNTL4 11 11,219,194
2283 GALNTL4 11 11,310,922 2284 GALNTL4 11 11,591,325
2285 GALNTL4 11 11,611,548 2286 MICAL2 11 12,148,237
2287 MICAL2 11 12,165,670 2288 MICAL2 11 12,172,022
2289 MICAL2 11 12,179,624 2290 MICAL2 11 12,187,248
2291 SPONl 11 13,978,590 2292 SPONl 11 13,991,391
2293 SPONl 11 13,992,156 2294 SPONl 11 13,992,537
2295 SPONl 11 13,994,054 2296 SPONl 11 13,995,954
2297 SPONl 11 14,004,879 2298 SPONl 11 14,005,230
2299 SPONl 11 14,005,260 2300 SPONl 11 14,005,745
2301 SPONl 11 14,008,775 2302 SPONl 11 14,014,762
2303 SPONl 11 14,014,854 2304 SPONl 11 14,031,836
2305 SPONl 11 14,039,110 2306 SPONl 11 14,043,034
2307 SPONl 11 14,070,335 2308 SPONl 11 14,075,677
2309 SPONl 11 14,213,020 2310 SPONl 11 14,215,231
2311 SPONl 11 14,221,555 2312 SPONl 11 14,233,507
2313 SPONl 11 14,248,953 2314 USHlC 11 17,470,828
2315 USHlC 11 17,472,244 2316 USHlC 11 17,475,101
2317 USHlC 11 17,499,779 2318 OTOG 11 17,615,741
2319 SERGEF 11 17,761,574 2320 SERGEF 11 17,767,536
2321 SERGEF 11 17,772,558 2322 IGSF22 11 18,643,492
2323 IGSF22 11 18,646,229 2324 IGSF22 11 18,646,965
2325 IGSF22 11 18,689,422 2326 PTPN5 11 18,732,258
2327 PTPN5 11 18,732,276 2328 PTPN5 11 18,732,907
2329 PTPN5 11 18,761,510 2330 NAV2 11 19,700,849
2331 NAV2 11 19,707,031 2332 NAV2 11 19,707,122 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
2333 NAV2 11 19,713,624 2334 NAV2 11 19,724,190
2335 NAV2 11 19,727,563 2336 NAV2 11 19,732,967
2337 NAV2 11 19,733,236 2338 NAV2 11 19,743,216
2339 NAV2 11 19,916,723 2340 NAV2 11 20,071,925
2341 NAV2 11 20,077,485 2342 NAV2 11 20,077,810
2343 NAV2 11 20,078,033 2344 NAV2 11 20,078,168
2345 SLC6A5 11 20,579,618 2346 SLC6A5 11 20,597,598
2347 SLC6A5 11 20,598,252 2348 SLC6A5 11 20,599,698
2349 SLC6A5 11 20,599,788 2350 SLC6A5 11 20,601,656
2351 SLC6A5 11 20,609,196 2352 NELLl 11 20,763,894
2353 KCNA4 11 29,964,590 2354 KCNA4 11 29,983,650
2355 KCNA4 11 29,984,859 2356 KCNA4 11 29,987,012
2357 LRRC4C 11 40,094,119 2358 LRRC4C 11 40,098,953
2359 LRRC4C 11 40,131,206 2360 LRRC4C 11 40,149,430
2361 LRRC4C 11 40,149,688 2362 LRRC4C 11 40,194,755
2363 LRRC4C 11 40,198,084 2364 LRRC4C 11 40,209,366
2365 LRRC4C 11 40,211,317 2366 LRRC4C 11 40,212,327
2367 LRRC4C 11 40,216,303 2368 LRRC4C 11 40,216,724
2369 LRRC4C 11 40,217,071 2370 LRRC4C 11 40,229,850
2371 LRRC4C 11 40,231,418 2372 LRRC4C 11 40,231,636
2373 LRRC4C 11 40,262,733 2374 LRRC4C 11 40,306,179
2375 LRRC4C 11 40,359,450 2376 PHACS 11 44,050,194 mi PHACS 11 44,050,992 2378 PHACS 11 44,057,118
2379 PHACS 11 44,057,694 2380 PHACS 11 44,058,383
2381 PHACS 11 44,062,444 2382 PHACS 11 44,067,266
2383 SYT 13 11 45,220,853 2384 SYT 13 11 45,226,820
2385 SYT 13 11 45,233,558 2386 SYT 13 11 45,234,779
2387 SYT 13 11 45,234,893 2388 SYT 13 11 45,242,661
2389 SYT 13 11 45,254,175 2390 CTNNDl 11 57,237,199
2391 CTNNDl 11 57,257,758 2392 CTNNDl 11 57,312,346
2393 CTNNDl 11 57,350,416 2394 CTNNDl 11 57,353,641
2395 CTNNDl 11 57,353,850 2396 CTNNDl 11 57,380,391
2397 DLG2 11 82,852,684 2398 DLG2 11 82,866,094
2399 DLG2 11 82,881,713 2400 DLG2 11 82,882,102
2401 DLG2 11 82,910,180 2402 DLG2 11 82,913,481
2403 DLG2 11 82,935,775 2404 DLG2 11 82,970,299
2405 DLG2 11 82,982,760 2406 DLG2 11 83,004,627
2407 DLG2 11 83,018,046 2408 DLG2 11 83,018,663
2409 DLG2 11 83,018,964 2410 DLG2 11 83,036,277
2411 DLG2 11 83,065,789 2412 DLG2 11 83,083,527
2413 DLG2 11 83,086,000 2414 DLG2 11 83,086,089
2415 DLG2 11 83,098,203 2416 DLG2 11 83,099,929
2417 DLG2 11 83,120,827 2418 DLG2 11 84,210,011
2419 DLG2 11 84,254,292 2420 DLG2 11 84,307,983
2421 ELMODl 11 107,036,969 2422 OPCML 11 131,716,323
2423 OPCML 11 131,904,482 2424 OPCML 11 132,032,722
2425 OPCML 11 132,037,815 2426 OPCML 11 132,624,713
2427 OPCML 11 132,795,217 2428 OPCML 11 132,905,489
2429 OPCML 11 133,105,149 2430 WNT5B 12 1,610,432
2431 WNT5B 12 1,611,877 2432 TSPAN9 12 3,053,288
2433 TSPAN9 12 3,173,346 2434 TSPAN9 12 3,257,542
2435 TSPAN9 12 3,258,265 2436 TMEMl 6B 12 5,755,581
2437 TMEMl 6B 12 5,760,697 2438 TMEMl 6B 12 5,776,400 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
2439 TMEMl 6B 12 5,781,725 2440 TMEMl 6B 12 5,786,611
2441 TMEMl 6B 12 5,793,628 2442 TMEMl 6B 12 5,794,409
2443 STYKl 12 10,676,279 2444 STYKl 12 10,696,179
2445 STYKl 12 10,697,552 2446 STYKl 12 10,697,609
2447 STYKl 12 10,697,767 2448 STYKl 12 10,711,189
2449 LOC729025 12 16,235,442 2450 LOC729025 12 16,236,620
2451 LOC729025 12 16,237,633 2452 LOC729025 12 16,237,876
2453 LOC729025 12 16,288,678 2454 LOC729025 12 16,297,957
2455 LOC729025 12 16,298,403 2456 LOC729025 12 16,302,981
2457 LOC729025 12 16,310,672 2458 PIK3C2G 12 18,212,721
2459 PIK3C2G 12 18,349,706 2460 PIK3C2G 12 18,356,504
2461 PIK3C2G 12 18,393,150 2462 PIK3C2G 12 18,459,343
2463 PIK3C2G 12 18,506,439 2464 PIK3C2G 12 18,701,315
2465 ITPR2 12 26,335,364 2466 ITPR2 12 26,379,772
2467 ITPR2 12 26,383,105 2468 ITPR2 12 26,476,845
2469 ITPR2 12 26,621,910 2470 ITPR2 12 26,641,098
2471 ITPR2 12 26,650,941 2472 LRPl 12 55,844,772
2473 LRPl 12 55,847,718 2474 LRPl 12 55,878,824
2475 LRPl 12 55,909,088 2476 CNOT2 12 68,893,334
2477 CNOT2 12 68,954,824 2478 KCNC2 12 73,597,214
2479 KCNC2 12 73,597,675 2480 KCNC2 12 73,855,015
2481 NAV3 12 77,041,541 2482 NAV3 12 77,042,099
2483 NAV3 12 77,070,387 2484 GAS2L3 12 99,494,084
2485 GAS2L3 12 99,494,793 2486 GAS2L3 12 99,495,794
2487 CHSTI l 12 103,575,899 2488 CHSTI l 12 103,669,570
2489 CHSTI l 12 103,676,521 2490 CHSTI l 12 103,681,081
2491 CHSTI l 12 103,685,709 2492 CHSTI l 12 103,685,984
2493 CHSTI l 12 103,692,809 2494 CHSTI l 12 103,696,050
2495 CHSTI l 12 103,702,696 2496 CHSTI l 12 103,704,275
2497 KIAA1853 12 118,035,761 2498 KIAAl 853 12 118,052,804
2499 KIAA1853 12 118,053,104 2500 KIAAl 853 12 118,054,044
2501 KIAA1853 12 118,054,167 2502 KIAAl 853 12 118,054,447
2503 PLA2G1B 12 119,247,148 2504 RIMBP2 12 129,432,804
2505 RIMBP2 12 129,433,601 2506 RIMBP2 12 129,529,219
2507 STX2 12 129,846,370 2508 STX2 12 129,854,397
2509 STX2 12 129,879,750 2510 STX2 12 129,885,052
2511 KIAA1545 12 131,667,713 2512 KIAAl 545 12 131,671,419
2513 MTIF3 13 26,909,686 2514 MTIF3 13 26,939,055
2515 MTIF3 13 26,979,535 2516 UBL3 13 29,235,331
2517 N4BP2L2 13 31,897,951 2518 N4BP2L2 13 31,934,759
2519 N4BP2L2 13 31,953,620 2520 NBEA 13 34,550,806
2521 NBEA 13 34,773,125 2522 NBEA 13 34,784,368
2523 NBEA 13 34,796,208 2524 NBEA 13 34,827,043
2525 NBEA 13 34,952,510 2526 NBEA 13 34,980,142
2527 NBEA 13 35,070,686 2528 TRPC4 13 37,108,100
2529 TRPC4 13 37,203,414 2530 TRPC4 13 37,212,640
2531 TRPC4 13 37,243,920 2532 TRPC4 13 37,282,014
2533 KPNA3 13 49,167,094 2534 KPNA3 13 49,231,388
2535 KPNA3 13 49,279,103 2536 KPNA3 13 49,341,559
2537 PCDH17 13 56,739,785 2538 PCDH17 13 57,113,143
2539 PCDH17 13 57,113,277 2540 PCDH17 13 57,124,943
2541 PCDH17 13 57,130,775 2542 PCDH20 13 60,868,943
2543 PCDH20 13 60,932,538 2544 PCDH20 13 60,964,632 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
2545 LM07 13 75,283,739 2546 LMO7 13 75,308,726
2547 SLAINl 13 77,123,666 2548 SLAINl 13 77,130,842
2549 SLAINl 13 77,131,233 2550 SLAINl 13 77,159,020
2551 SLAINl 13 77,192,498 2552 SLAINl 13 77,192,550
2553 SLAINl 13 77,232,218 2554 GPC5 13 90,781,911
2555 GPC5 13 90,792,026 2556 GPC5 13 90,811,414
2557 GPC5 13 90,811,945 2558 GPC5 13 90,813,978
2559 GPC5 13 90,817,618 2560 GPC5 13 90,818,043
2561 GPC5 13 92,100,968 2562 GPC5 13 92,117,688
2563 GPC5 13 92,117,738 2564 GPC5 13 92,121,147
2565 GPC5 13 92,121,270 2566 GPC6 13 92,948,013
2567 GPC6 13 93,081,095 2568 GPC6 13 93,115,588
2569 GPC6 13 93,183,430 2570 GPC6 13 93,185,878
2571 GPC6 13 93,196,895 2572 GPC6 13 93,196,981
2573 GPC6 13 93,197,927 2574 GPC6 13 93,235,757
2575 GPC6 13 93,235,896 2576 GPC6 13 93,243,178
2577 GPC6 13 93,243,273 2578 GPC6 13 93,244,881
2579 GPC6 13 93,249,369 2580 GPC6 13 93,253,982
2581 GPC6 13 93,254,425 2582 GPC6 13 93,254,940
2583 GPC6 13 93,259,422 2584 GPC6 13 93,288,101
2585 GPC6 13 93,289,027 2586 GPC6 13 93,317,951
2587 GPC6 13 93,340,807 2588 GPC6 13 93,341,695
2589 GPC6 13 93,863,160 2590 NALCN 13 100,499,428
2591 NALCN 13 100,499,748 2592 NALCN 13 100,502,077
2593 NALCN 13 100,507,599 2594 NALCN 13 100,510,427
2595 NALCN 13 100,511,470 2596 NALCN 13 100,518,301
2597 NALCN 13 100,524,314 2598 NALCN 13 100,524,587
2599 NALCN 13 100,530,564 2600 NALCN 13 100,535,000
2601 NALCN 13 100,595,841 2602 NALCN 13 100,742,753
2603 ITGBLl 13 100,956,004 2604 ITGBLl 13 100,973,881
2605 ITGBLl 13 100,973,899 2606 ITGBLl 13 101,140,742
2607 ITGBLl 13 101,146,706 2608 ITGBLl 13 101,163,997
2609 ITGBLl 13 101,164,826 2610 ITGBLl 13 101,165,404
2611 ITGBLl 13 101,165,489 2612 FGF 14 13 101,224,288
2613 FGF 14 13 101,249,030 2614 FGF 14 13 101,881,550
2615 TTC5 14 19,786,681 2616 TTC5 14 19,826,727
2617 TTC5 14 19,827,644 2618 TTC5 14 19,833,934
2619 TTC5 14 19,834,425 2620 TTC5 14 19,837,458
2621 TTC5 14 19,839,876 2622 TTC5 14 19,845,685
2623 TEPl 14 19,921,869 2624 TEPl 14 19,922,610
2625 TEPl 14 19,922,657 2626 TEPl 14 19,945,109
2627 WDR23 14 23,664,573 2628 NOVAl 14 25,943,292
2629 NOVAl 14 26,098,029 2630 NOVAl 14 26,159,322
2631 SLC25A21 14 36,224,345 2632 SLC25A21 14 36,352,544
2633 SLC25A21 14 36,558,361 2634 SLC25A21 14 36,619,169
2635 SLC25A21 14 36,727,597 2636 GNG2 14 51,393,655
2637 GNG2 14 51,394,658 2638 GNG2 14 51,395,147
2639 GNG2 14 51,406,432 2640 GNG2 14 51,419,524
2641 GNG2 14 51,422,662 2642 GNG2 14 51,422,700
2643 GNG2 14 51,428,644 2644 GNG2 14 51,480,711
2645 GNG2 14 51,480,818 2646 GNG2 14 51,486,162
2647 GNG2 14 51,520,930 2648 SAMD4A 14 54,092,204
2649 SAMD4A 14 54,169,379 2650 SAMD4A 14 54,327,340 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
2651 DAAMl 14 58,765,383 2652 DAAMl 14 58,768,753
2653 DAAMl 14 58,874,752 2654 DAAMl 14 58,883,684
2655 DAAMl 14 58,899,726 2656 GPR135 14 58,952,891
2657 GPR135 14 58,954,960 2658 GPR135 14 58,961,544
2659 GPR135 14 58,963,400 2660 GPR135 14 58,997,129
2661 PPP2R5E 14 62,856,367 2662 PPP2R5E 14 62,856,493
2663 PPP2R5E 14 63,040,607 2664 PPP2R5E 14 63,044,719
2665 PPP2R5E 14 63,050,455 2666 PPP2R5E 14 63,050,484
2667 PPP2R5E 14 63,060,864 2668 PPP2R5E 14 63,078,186
2669 PPP2R5E 14 63,099,534 2670 PPP2R5E 14 63,125,605
2671 RGS6 14 71,433,141 2672 RGS 6 14 71,436,529
2673 RGS6 14 71,727,478 2674 RGS 6 14 71,785,834
2675 RGS6 14 71,789,406 2676 RGS 6 14 71,792,071
2677 RGS6 14 71,793,717 2678 RGS 6 14 71,796,649
2679 RGS6 14 71,801,725 2680 RGS 6 14 71,889,437
2681 RGS6 14 71,979,491 2682 RGS 6 14 71,990,360
2683 RGS6 14 72,012,929 2684 RGS 6 14 72,024,776
2685 RGS6 14 72,124,860 2686 KCNKlO 14 87,843,799
2687 KCNKlO 14 87,844,293 2688 KCNKlO 14 87,869,850
2689 KCNKlO 14 87,874,319 2690 KCNKlO 14 87,874,519
2691 KCNKlO 14 87,877,121 2692 KCNKlO 14 87,878,632
2693 KCNKlO 14 87,881,781 2694 KCNKlO 14 87,887,777
2695 KCNKl 3 14 89,678,960 2696 KCNKl 3 14 89,686,350
2697 KCNKl 3 14 89,697,368 2698 RPS6KA5 14 90,544,201
2699 RPS6KA5 14 90,576,018 2700 CCDC88C 14 90,843,321
2701 CCDC88C 14 90,862,073 2702 CCDC88C 14 90,914,886
2703 CCDC88C 14 90,916,433 2704 CCDC88C 14 90,918,598
2705 CCDC88C 14 90,919,949 2706 CCDC88C 14 90,920,049
2707 CCDC88C 14 90,926,910 2708 CCDC88C 14 90,944,709
2709 CCDC88C 14 90,960,430 2710 ATXN3 14 91,626,364
2711 ATPlOA 15 23,496,768 2712 ATPlOA 15 23,504,291
2713 ATPlOA 15 23,505,611 2714 ATPlOA 15 23,507,697
2715 ATPlOA 15 23,513,151 2716 ATPlOA 15 23,653,372
2717 ATPlOA 15 23,829,032 2718 RYR3 15 31,507,942
2719 RYR3 15 31,533,192 2720 RYR3 15 31,534,443
2721 RYR3 15 31,536,045 2722 RYR3 15 31,542,264
2723 RYR3 15 31,542,373 2724 RYR3 15 31,545,132
2725 RYR3 15 31,550,764 2726 RYR3 15 31,557,413
2727 RYR3 15 31,564,997 2728 RYR3 15 31,566,783
2729 RYR3 15 31,567,171 2730 RYR3 15 31,623,922
2731 RYR3 15 31,646,227 2732 RYR3 15 31,744,674
2733 RYR3 15 31,803,566 2734 RYR3 15 31,921,882
2735 C15ORF41 15 34,771,254 2736 C15ORF41 15 34,847,872
2737 C15ORF41 15 34,859,591 2738 C15ORF41 15 34,862,071
2739 C15ORF41 15 34,863,762 2740 C15ORF41 15 34,863,820
2741 C15ORF41 15 34,864,057 2742 MEIS2 15 34,955,596
2743 MEIS2 15 35,081,084 2744 MEIS2 15 35,086,366
2745 MEIS2 15 35,091,425 2746 RASGRPl 15 36,656,958
2747 KIAA1370 15 50,614,631 2748 KIAA1370 15 50,617,081
2749 UNC13C 15 52,127,362 2750 UNC13C 15 52,127,720
2751 UNC13C 15 52,134,616 2752 UNC13C 15 52,176,418
2753 UNC13C 15 52,178,602 2754 UNC13C 15 52,179,635
2755 UNC13C 15 52,182,570 2756 UNC13C 15 52,222,738 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
2757 UNC13C 15 52,224,076 2758 UNC13C 15 52,243,049
2759 UNC13C 15 52,337,529 2760 UNC13C 15 52,337,770
2761 UNC13C 15 52,338,559 2762 UNC13C 15 52,357,520
2763 UNC13C 15 52,357,746 2764 UNC13C 15 52,465,606
2765 UNC13C 15 52,658,396 2766 UNC13C 15 52,682,121
2767 UNC13C 15 52,708,142 2768 NEDD4 15 53,987,004
2769 CGNLl 15 55,460,127 2770 CGNLl 15 55,460,219
2771 CGNLl 15 55,501,043 2772 GRINLlA 15 55,689,523
2773 GRINLlA 15 55,692,212 2774 GRINLlA 15 55,705,948
2775 GRINLlA 15 55,713,128 2776 GRINLlA 15 55,718,309
2777 ADAMlO 15 56,701,618 2778 ADAMlO 15 56,708,490
2779 ADAMlO 15 56,810,507 2780 ADAMlO 15 56,829,655
2781 CLK3 15 72,702,941 2782 TBC1D2B 15 75,940,905
2783 TBC1D2B 15 76,083,890 2784 TBC1D2B 15 76,098,398
2785 ARNT2 15 78,583,183 2786 ARNT2 15 78,673,568
2787 ARNT2 15 78,674,561 2788 ARNT2 15 78,694,359
2789 AKAP 13 15 83,807,339 2790 AKAP 13 15 83,811,108
2791 AKAP 13 15 83,840,475 2792 AKAP 13 15 83,841,141
2793 AKAP 13 15 83,841,398 2794 AKAP 13 15 83,847,837
2795 AKAP 13 15 83,848,290 2796 AKAP 13 15 83,851,894
2797 AKAP 13 15 83,857,466 2798 AKAP 13 15 83,864,137
2799 AKAP 13 15 83,865,972 2800 AKAP 13 15 83,870,122
2801 AKAP 13 15 83,871,692 2802 AKAP 13 15 83,880,838
2803 AKAP 13 15 83,921,005 2804 AKAP 13 15 83,929,645
2805 AKAP 13 15 83,941,483 2806 AKAP 13 15 83,961,445
2807 AKAP 13 15 84,001,703 2808 AKAP 13 15 84,017,421
2809 AKAP 13 15 84,019,771 2810 AKAP 13 15 84,025,574
2811 AKAP 13 15 84,034,013 2812 AKAP 13 15 84,052,538
2813 AKAP 13 15 84,052,594 2814 AKAP 13 15 84,060,543
2815 AKAP 13 15 84,061,704 2816 SV2B 15 89,609,732
2817 SLCO3A1 15 90,284,500 2818 SLCO3A1 15 90,441,591
2819 SLCO3A1 15 90,464,205 2820 SLCO3A1 15 90,499,647
2821 ST8SIA2 15 90,747,330 2822 RGMA 15 91,386,979
2823 IGFlR 15 97,045,310 2824 IGFlR 15 97,046,853
2825 IGFlR 15 97,049,391 2826 A2BP1 16 6,249,617
2827 A2BP1 16 6,251,202 2828 A2BP1 16 6,253,029
2829 A2BP1 16 6,657,066 2830 A2BP1 16 6,688,743
2831 A2BP1 16 7,419,133 2832 A2BP1 16 7,628,696
2833 A2BP1 16 7,629,108 2834 A2BP1 16 7,630,524
2835 A2BP1 16 7,632,187 2836 A2BP1 16 7,706,480
2837 TMC5 16 19,254,444 2838 TMC5 16 19,378,267
2839 N4BP1 16 47,114,074 2840 N4BP1 16 47,129,091
2841 GOT2 16 57,298,868 2842 GOT2 16 57,300,955
2843 GOT2 16 57,314,899 2844 GOT2 16 57,317,440
2845 GOT2 16 57,318,951 2846 GOT2 16 57,319,081
2847 GOT2 16 57,319,812 2848 GOT2 16 57,360,362
2849 GOT2 16 57,361,735 2850 GOT2 16 57,361,866
2851 GOT2 16 57,362,682 2852 GOT2 16 57,394,412
2853 GOT2 16 57,421,815 2854 WWOX 16 76,669,764
2855 WWOX 16 76,671,254 2856 WWOX 16 76,673,175
2857 WWOX 16 76,674,781 2858 PLCG2 16 80,579,047
2859 MPHOSPH6 16 80,702,549 2860 MPHOSPH6 16 80,726,886
2861 MPHOSPH6 16 80,728,226 2862 MPHOSPH6 16 80,743,884 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
2863 MPHOSPH6 16 80,757,604 2864 MPHOSPH6 16 80,763,959
2865 MPHOSPH6 16 80,765,783 2866 MPHOSPH6 16 80,765,856
2867 MPHOSPH6 16 80,820,057 2868 CDH 13 16 81,812,818
2869 CDH13 16 81,896,946 2870 CDH 13 16 81,904,078
2871 CDH13 16 81,905,756 2872 CDH 13 16 81,917,154
2873 CDH13 16 82,328,997 2874 CDH 13 16 82,331,866
2875 KIAA0182 16 84,248,252 2876 KIAAO 182 16 84,260,191
2877 KIAA0182 16 84,263,548 2878 KIAAO 182 16 84,264,134
2879 KIAA0182 16 84,269,361 2880 GAS7 17 9,747,805
2881 DNAH9 17 11,408,733 2882 DNAH9 17 11,776,046
2883 DNAH9 17 11,806,187 2884 RAB11FIP4 17 26,867,375
2885 RAB11FIP4 17 27,004,572 2886 RAB11FIP4 17 27,005,299
2887 CAlO 17 47,587,715 2888 CAlO 17 47,983,984
2889 CAlO 17 48,008,209 2890 CAlO 17 48,026,031
2891 CAlO 17 48,122,155 2892 CAlO 17 48,154,827
2893 MSI2 17 53,002,826 2894 MSI2 17 53,007,065
2895 SDK2 17 68,953,741 2896 SDK2 17 68,954,425
2897 DNAH17 17 73,954,236 2898 DNAH17 17 74,016,132
2899 DNAH17 17 74,017,503 2900 HRNBP3 17 75,313,177
2901 HRNBP3 17 75,313,214 2902 DLGAPl 18 3,603,827
2903 DLGAPl 18 3,605,943 2904 ZFP161 18 5,237,432
2905 ZFP161 18 5,240,346 2906 ZFP161 18 5,251,246
2907 ZFP161 18 5,280,198 2908 ZFP161 18 5,283,875
2909 ZFP161 18 5,283,943 2910 ZFP161 18 5,284,323
2911 PTPRM 18 7,978,643 2912 PTPRM 18 8,000,444
2913 PTPRM 18 8,012,573 2914 PTPRM 18 8,013,359
2915 PTPRM 18 8,021,623 2916 PTPRM 18 8,024,067
2917 PTPRM 18 8,040,886 2918 PTPRM 18 8,042,261
2919 PTPRM 18 8,059,868 2920 PTPRM 18 8,068,553
2921 PTPRM 18 8,070,357 2922 PTPRM 18 8,075,047
2923 PTPRM 18 8,086,608 2924 KIAA0802 18 8,832,312
2925 KIAA0802 18 8,833,160 2926 KIAA0802 18 8,839,087
2927 KIAA0802 18 8,840,062 2928 KIAA0802 18 8,844,132
2929 OSBPLlA 18 20,042,294 2930 OSBPLlA 18 20,076,380
2931 OSBPLlA 18 20,093,929 2932 CHST9 18 22,940,363
2933 CHST9 18 22,960,659 2934 CHST9 18 22,965,754
2935 CHST9 18 23,000,286 2936 CHST9 18 23,010,213
2937 CHST9 18 23,012,354 2938 CHST9 18 23,015,926
2939 FUSSEL18 18 43,092,404 2940 FUSSELl 8 18 43,096,405
2941 FUSSEL18 18 43,105,881 2942 KIAA0427 18 44,356,926
2943 KIAA0427 18 44,410,788 2944 KIAA0427 18 44,488,963
2945 KIAA0427 18 44;489,439 2946 KIAA0427 18 44;494;468
2947 KIAA0427 18 44;494;709 2948 KIAA0427 18 44,495,161
2949 KIAA0427 18 44;594,841 2950 KIAA0427 18 44,622,539
2951 DCC 18 48,523,497 2952 DCC 18 48,581,071
2953 DCC 18 48,606,324 2954 DCC 18 48,607,209
2955 DCC 18 48,608,936 2956 DCC 18 48,609,120
2957 DCC 18 48,609,275 2958 DCC 18 48,609,314
2959 DCC 18 48,709,007 2960 DCC 18 48,872,357
2961 DCC 18 48,876,855 2962 DCC 18 48,877,638
2963 DCC 18 49,023,541 2964 DCC 18 49,067,285
2965 DCC 18 49,159,204 2966 DCC 18 49,159,355
2967 DCC 18 49,159,861 2968 DCC 18 49,160,029 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
2969 DCC 18 49,311,296 2970 NEDD4L 18 53,901,050
2971 NEDD4L 18 53,910,209 2972 NEDD4L 18 53,913,025
2973 NEDD4L 18 54,257,576 2974 CCBEl 18 55,266,769
2975 TXNDClO 18 64,472,145 2976 TXNDClO 18 64,477,750
2977 TXNDClO 18 64,478,795 2978 TXNDClO 18 64,483,488
2979 TXNDClO 18 64,509,383 2980 TXNDClO 18 64,531,445
2981 TXNDClO 18 64,536,945 2982 TXNDClO 18 64,644,387
2983 DOK6 18 65,007,777 2984 DOK6 18 65,239,042
2985 DOK6 18 65,284,947 2986 DOK6 18 65,290,269
2987 DOK6 18 65,297,738 2988 DOK6 18 65,312,795
2989 DOK6 18 65,312,915 2990 DOK6 18 65,323,078
2991 DOK6 18 65,324,331 2992 DOK6 18 65,413,042
2993 DOK6 18 65,421,361 2994 DOK6 18 65,437,247
2995 DOK6 18 65,637,817 2996 MBP 18 72,849,372
2997 MBP 18 72,851,555 2998 MBP 18 72,856,606
2999 MBP 18 73,014,458 3000 MBP 18 73,015,500
3001 LDLR 19 11,097,804 3002 ZNF667 19 61,676,582
3003 ZNF667 19 61,678,984 3004 ATRN 20 3,553,336
3005 RNF24 20 3,865,215 3006 RNF24 20 3,865,397
3007 RNF24 20 3,882,766 3008 RNF24 20 3,941,491
3009 PRNT 20 4,653,718 3010 PRNT 20 4,653,865
3011 PRNT 20 4,667,449 3012 PRNT 20 4,679,109
3013 PRNT 20 4,679,377 3014 FERMTl 20 5,998,478
3015 FERMTl 20 6,010,641 3016 FERMTl 20 6,025,907
3017 FERMTl 20 6,033,216 3018 FERMTl 20 6,037,513
3019 FERMTl 20 6,037,952 3020 PLCBl 20 8,062,704
3021 PLCBl 20 8,082,140 3022 PLCBl 20 8,092,135
3023 PLCBl 20 8,109,126 3024 PLCBl 20 8,198,182
3025 PLCBl 20 8,198,311 3026 PLCBl 20 8,318,230
3027 PLCBl 20 8,340,262 3028 PLCB4 20 9,114,332
3029 PLCB4 20 9,119,736 3030 PLCB4 20 9,129,662
3031 PLCB4 20 9,137,987 3032 PLCB4 20 9,142,973
3033 PLCB4 20 9,411,693 3034 PLCB4 20 9,418,063
3035 PLCB4 20 9,419,575 3036 JAGl 20 10,587,841
3037 JAGl 20 10,589,470 3038 JAGl 20 10,589,575
3039 MACROD2 20 14,254,953 3040 MACROD2 20 15,085,117
3041 MACROD2 20 15,413,513 3042 MACROD2 20 15,414,269
3043 MACROD2 20 15,424,726 3044 MACROD2 20 15,438,760
3045 MACROD2 20 15,443,389 3046 MACROD2 20 15,756,444
3047 MACROD2 20 15,775,930 3048 MACROD2 20 15,780,282
3049 MACROD2 20 15,951,406 3050 KIF 16B 20 16,200,981
3051 KIF 16B 20 16,418,749 3052 PTPRT 20 40,087,340
3053 PTPRT 20 40,173,455 3054 PTPRT 20 40,508,810
3055 PTPRT 20 40,510,165 3056 PTPRT 20 40,515,646
3057 PTPRT 20 40,714,518 3058 PTPRT 20 40,781,649
3059 KCNBl 20 47,550,362 3060 PTGIS 20 47,554,184
3061 PTGIS 20 47,563,113 3062 PTGIS 20 47,563,394
3063 PTGIS 20 47,563,735 3064 PTGIS 20 47,600,610
3065 BMP7 20 55,192,062 3066 BMP7 20 55,237,584
3067 BMP7 20 55,238,534 3068 BMP7 20 55,243,363
3069 BMP7 20 55,257,169 3070 BMP7 20 55,258,167
3071 GNAS 20 56,912,202 3072 GNAS 20 56,919,207
3073 CDH4 20 59,236,556 3074 CDH4 20 59,263,242 TABLE A: Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP)
3075 CDH4 20 59,287,333 3076 CDH4 20 59,349,681
3077 CDH4 20 59,408,443 3078 CDH4 20 59,409,551
3079 CDH4 20 59,410,397 3080 CDH4 20 59,411,482
3081 CDH4 20 59,439,102 3082 CDH4 20 59,513,826
3083 CDH4 20 59,708,684 3084 CDH4 20 59,709,160
3085 CDH4 20 59,710,358 3086 CDH4 20 59,832,199
3087 CDH4 20 59,852,651 3088 CDH4 20 59,854,564
3089 CDH4 20 59,855,625 3090 NCAM2 21 20,820,603
3091 NCAM2 21 20,822,764 3092 NCAM2 21 20,823,179
3093 NCAM2 21 21,401,668 3094 NCAM2 21 21,485,064
3095 NCAM2 21 21,654,800 3096 NCAM2 21 21,654,816
3097 NCAM2 21 21,658,511 3098 NCAM2 21 21,664,277
3099 NCAM2 21 21,667,058 3100 NCAM2 21 21,670,625
3101 NCAM2 21 21,677,311 3102 NCAM2 21 21,686,082
3103 NCAM2 21 21,692,759 3104 NCAM2 21 21,706,609
3105 NCAM2 21 21,717,043 3106 NCAM2 21 21,722,038
3107 NCAM2 21 21,770,148 3108 NCAM2 21 21,772,362
3109 ERG 21 38,829,307 3110 PCP4 21 40,190,608
3111 PCP4 21 40,196,614 3112 PCP4 21 40,198,160
3113 SLC37A1 21 42,826,920 3114 SLC37A1 21 42,829,968
3115 SLC37A1 21 42,833,146 3116 SLC37A1 21 42,895,327
3117 PDE9A 21 42,977,018 3118 PDE9A 21 42,990,494
3119 PDE9A 21 43,064,200 3120 ARVCF 22 18,342,203
3121 ASPHD2 22 25,171,390 3122 ASPHD2 22 25,171,643
3123 HPS4 22 25,174,769 3124 TTLLl 22 41,800,470
3125 EFCAB6 22 42,373,315 3126 EFCAB6 22 42,397,103
3127 EFCAB6 22 42,417,370 3128 EFCAB6 22 42,454,850
3129 EFCAB6 22 42,521,911 3130 SULT4A1 22 42,542,231
3131 SULT4A1 22 42,551,476 3132 SULT4A1 22 42,570,832
3133 SULT4A1 22 42,580,796 3134 SULT4A1 22 42,581,963
3135 SULT4A1 22 42,582,522 3136 SULT4A1 22 42,603,569
3137 SULT4A1 22 42,603,783 3138 RIBC2 22 44,257,648
3139 RIBC2 22 44,258,667 3140 RIBC2 22 44,265,997
3141 RIBC2 22 44,271,097
OTHER EMBODIMENTS
It is to be understood that while the invention has been described in conjunction with the detailed description thereof, the foregoing description is intended to illustrate and not limit the scope of the invention, which is defined by the scope of the appended claims. Other aspects, advantages, and modifications are within the scope of the following claims.

Claims

WHAT IS CLAIMED IS:
1. A method of making a differential diagnosis between bipolar disorder (BD) and schizophrenia (SZ) in a human subject, the method comprising: determining the identity of at least one allele of a single nucleotide polymorphism (SNP) listed in Table 1; and comparing the identity of the allele in the subject with a reference allele, wherein the reference allele is either an allele associated with BD (OR > 1) or an allele associated with SZ (OR < 1), wherein the presence of an allele in the subject that is the same as a reference allele that is associated with BD indicates that the subject has an increased risk of developing BD, and the presence of an allele in the subject that is the same as a reference allele that is associated with SZ indicates that the subject has an increased risk of developing SZ.
2. The method of claim 1 , wherein the SNP is selected from the group consisting of SEQ ID NO:2701, 154, 2409, 371, 378, 515, 509, 2878, 576, and 957.
3. A method of diagnosing, or determining risk of developing, psychosis in a human subject, the method comprising: determining the identity of at least one allele of a SNP listed in Table 2; and comparing the identity of the allele in the subject with a reference allele, wherein the reference allele is associated with psychosis, wherein the presence of an allele in the subject that the same as the reference allele indicates that the subject has psychosis or has an increased risk of developing psychosis.
4. The method of claim 3, wherein the SNP is selected from the group consisting of SEQ ID NOs: 906, 2591, 1285, 904, 951, 50, 1127, 112, and 268.
5. The method of claims 1 or 3, wherein determining the identity of an allele comprises obtaining a sample comprising DNA from the subject, and determining identity of the nucleotide at the polymorphic site.
6. The method of claim 3, wherein determining the identity of the nucleotide comprises contacting the sample with a probe specific for a selected allele of the polymorphism, and detecting the formation of complexes between the probe and the selected allele of the polymorphism, wherein the formation of complexes between the probe and the test marker indicates the presence of the selected allele in the sample.
7. The method of claim 6, wherein determining the identity of an allele comprises determining the identity of the nucleotide at position 31 of one of SEQ ID NOs: 1- 3141.
8. The method of claim 1 or 3, wherein the subject is a patient having or suspected of havin -*g& BD or SZ.
9. The method of claiml or 3, wherein the subject has one or more risk factors associated with BD or SZ.
10. The method of claim 9, wherein the risk factors associated with BD or SZ include one or more of: a relative afflicted with BD or SZ; and a genetically based phenotypic trait associated with risk for a BD or SZ.
11. The method of claim 1 or 3, wherein the subject has exhibited or exhibits symptoms of psychosis.
12. The method of claims 1 or 3, further comprising selecting or excluding a subject for enrollment in a clinical trial based on the identity of the allele.
13. The method of claims 1 or 3, further comprising stratifying a subject population for analysis of a clinical trial based on the identity of the allele in the subjects.
14. The method of claims 1 or 3, further comprising confirming a diagnosis of a SZ or BD using psychometric instruments.
15. The method of claim 1, further comprising selecting a treatment for BD if the allele in the subject is the same as a reference allele in a subject who has BD, or selecting a treatment for SZ if an allele in the subject is the same as a reference allele in a subject who has SZ.
16. The method of claim 15, further comprising administering the selected treatment to the subject.
17. The method of claim 15, wherein the treatment is psychotherapy.
18. The method of claim 3, wherein the psychosis is associated with bipolar disorder (BD) or schizophrenia (SZ).
19. The method of claims 1 or 3, further comprising recording the identity of the allele in a tangible medium.
20. The method of claims 1 or 3, wherein the tangible medium comprises a computer-readable disk, a solid state memory device, or an optical storage device.
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